esv3467629
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:65
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,119
- Publication(s):1000 Genomes Project Consortium et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 666 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3467629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| esv3467629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| esv3467629 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 70,171,212 (-1960, +340) | 70,181,330 (-380, +1920) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9409776 | deletion | SAMN00801049 | Sequencing | Read depth | 10,931 |
| essv9409777 | deletion | SAMN00001661 | Sequencing | Read depth | 10,576 |
| essv9409778 | deletion | SAMN00001667 | Sequencing | Read depth | 12,201 |
| essv9409779 | deletion | SAMN00001638 | Sequencing | Read depth | 14,476 |
| essv9409782 | deletion | SAMN00001680 | Sequencing | Read depth | 4,399 |
| essv9409783 | deletion | SAMN00001591 | Sequencing | Read depth | 13,341 |
| essv9409784 | deletion | SAMN00001679 | Sequencing | Read depth | 4,870 |
| essv9409785 | deletion | SAMN00001666 | Sequencing | Read depth | 11,359 |
| essv9409786 | deletion | SAMN00001625 | Sequencing | Read depth | 10,737 |
| essv9409787 | deletion | SAMN00001657 | Sequencing | Read depth | 7,873 |
| essv9409788 | deletion | SAMN00001655 | Sequencing | Read depth | 9,990 |
| essv9409789 | deletion | SAMN00001585 | Sequencing | Read depth | 11,247 |
| essv9409790 | deletion | SAMN00001620 | Sequencing | Read depth | 9,873 |
| essv9409791 | deletion | SAMN00801888 | Sequencing | Read depth | 69,298 |
| essv9409793 | deletion | SAMN00001687 | Sequencing | Read depth | 4,381 |
| essv9409794 | deletion | SAMN00001632 | Sequencing | Read depth | 10,836 |
| essv9409795 | deletion | SAMN00001678 | Sequencing | Read depth | 11,740 |
| essv9409796 | deletion | SAMN00001569 | Sequencing | Read depth | 9,598 |
| essv9409797 | deletion | SAMN00001646 | Sequencing | Read depth | 8,808 |
| essv9409798 | deletion | SAMN00001628 | Sequencing | Read depth | 11,296 |
| essv9409799 | deletion | SAMN00001636 | Sequencing | Read depth | 14,366 |
| essv9409800 | deletion | SAMN00001577 | Sequencing | Read depth | 9,631 |
| essv9409801 | deletion | SAMN00001596 | Sequencing | Read depth | 14,505 |
| essv9409802 | deletion | SAMN00001672 | Sequencing | Read depth | 4,244 |
| essv9409804 | deletion | SAMN00001663 | Sequencing | Read depth | 12,931 |
| essv9409805 | deletion | SAMN00001639 | Sequencing | Read depth | 14,223 |
| essv9409806 | deletion | SAMN00001649 | Sequencing | Read depth | 13,082 |
| essv9409807 | deletion | SAMN00001682 | Sequencing | Read depth | 4,499 |
| essv9409808 | deletion | SAMN00001651 | Sequencing | Read depth | 8,875 |
| essv9409809 | deletion | SAMN00001664 | Sequencing | Read depth | 4,787 |
| essv9409810 | deletion | SAMN00801914 | Sequencing | Read depth | 26,039 |
| essv9409811 | deletion | SAMN00001671 | Sequencing | Read depth | 10,275 |
| essv9409812 | deletion | SAMN00001552 | Sequencing | Read depth | 19,162 |
| essv9409813 | deletion | SAMN00801680 | Sequencing | Read depth | 19,937 |
| essv9409815 | deletion | SAMN00001668 | Sequencing | Read depth | 11,562 |
| essv9409816 | deletion | SAMN00001600 | Sequencing | Read depth | 15,861 |
| essv9409817 | deletion | SAMN00001617 | Sequencing | Read depth | 15,543 |
| essv9409818 | deletion | SAMN00001659 | Sequencing | Read depth | 9,629 |
| essv9409819 | deletion | SAMN00001685 | Sequencing | Read depth | 10,254 |
| essv9409820 | deletion | SAMN00800947 | Sequencing | Read depth | 10,286 |
| essv9409821 | deletion | SAMN00001690 | Sequencing | Read depth | 4,410 |
| essv9409822 | deletion | SAMN00001554 | Sequencing | Read depth | 9,542 |
| essv9409823 | deletion | SAMN00001538 | Sequencing | Read depth | 26,254 |
| essv9409824 | deletion | SAMN00001631 | Sequencing | Read depth | 9,100 |
| essv9409826 | deletion | SAMN00001582 | Sequencing | Read depth | 10,028 |
| essv9409827 | deletion | SAMN00001648 | Sequencing | Read depth | 15,747 |
| essv9409828 | deletion | SAMN00801912 | Sequencing | Read depth | 25,841 |
| essv9409829 | deletion | SAMN00001583 | Sequencing | Read depth | 12,092 |
| essv9409830 | deletion | SAMN00001592 | Sequencing | Read depth | 12,716 |
| essv9409831 | deletion | SAMN00001670 | Sequencing | Read depth | 4,622 |
| essv9409832 | deletion | SAMN00001645 | Sequencing | Read depth | 13,185 |
| essv9409833 | deletion | SAMN00001580 | Sequencing | Read depth | 12,837 |
| essv9409834 | deletion | SAMN00001556 | Sequencing | Read depth | 17,127 |
| essv9409835 | deletion | SAMN00800266 | Sequencing | Read depth | 11,909 |
| essv9409837 | deletion | SAMN00001642 | Sequencing | Read depth | 13,338 |
| essv9409838 | deletion | SAMN00001640 | Sequencing | Read depth | 13,740 |
| essv9409839 | deletion | SAMN00001590 | Sequencing | Read depth | 10,131 |
| essv9409840 | deletion | SAMN00797025 | Sequencing | Read depth | 11,740 |
| essv9409841 | deletion | SAMN00001630 | Sequencing | Read depth | 10,735 |
| essv9409842 | deletion | SAMN00001581 | Sequencing | Read depth | 12,254 |
| essv9409843 | deletion | SAMN00001697 | Sequencing | Read depth | 21,017 |
| essv9409844 | deletion | SAMN00001616 | Sequencing | Read depth | 16,444 |
| essv9409845 | deletion | SAMN00001691 | Sequencing | Read depth | 4,129 |
| essv9409846 | deletion | SAMN00001584 | Sequencing | Read depth | 11,452 |
| essv9409848 | deletion | SAMN00001534 | Sequencing | Read depth | 9,499 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9409776 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409777 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409778 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409779 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409782 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409783 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409784 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409785 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409786 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409787 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409788 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409789 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409790 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409791 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409793 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409794 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409795 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409796 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409797 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409798 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409799 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409800 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409801 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409802 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409804 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409805 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409806 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409807 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409808 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409809 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409810 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409811 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409812 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409813 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409815 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409816 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409817 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409818 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409819 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409820 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409821 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409822 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409823 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409824 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409826 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409827 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409828 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409829 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409830 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409831 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409832 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409833 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409834 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409835 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409837 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409838 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409839 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409840 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409841 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409842 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409843 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409844 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409845 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409846 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409848 | Remapped | Perfect | NC_000004.12:g.(69 268945_69271245)_( 69280643_69282943) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,270,905 (-1960, +340) | 69,281,023 (-380, +1920) |
| essv9409776 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409777 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409778 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409779 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409782 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409783 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409784 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409785 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409786 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409787 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409788 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409789 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409790 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409791 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409793 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409794 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409795 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409796 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409797 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409798 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409799 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409800 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409801 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409802 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409804 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409805 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409806 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409807 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409808 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409809 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409810 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409811 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409812 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409813 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
| essv9409815 | Remapped | Perfect | NC_000004.11:g.(70 134663_70136963)_( 70146361_70148661) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,136,623 (-1960, +340) | 70,146,741 (-380, +1920) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9409848 | 36 | SAMN00001534 | Digital array | Other | Pass |
| essv9409848 | 38 | SAMN00001534 | Digital array | Other | Pass |
| essv9409823 | 36 | SAMN00001538 | Digital array | Other | Pass |
| essv9409823 | 38 | SAMN00001538 | Digital array | Other | Pass |
| essv9409812 | 36 | SAMN00001552 | Digital array | Other | Pass |
| essv9409812 | 38 | SAMN00001552 | Digital array | Other | Pass |
| essv9409822 | 36 | SAMN00001554 | Digital array | Other | Pass |
| essv9409822 | 38 | SAMN00001554 | Digital array | Other | Pass |
| essv9409834 | 36 | SAMN00001556 | Digital array | Other | Pass |
| essv9409834 | 38 | SAMN00001556 | Digital array | Other | Pass |
| essv9409796 | 36 | SAMN00001569 | Digital array | Other | Pass |
| essv9409796 | 38 | SAMN00001569 | Digital array | Other | Pass |
| essv9409800 | 36 | SAMN00001577 | Digital array | Other | Pass |
| essv9409800 | 38 | SAMN00001577 | Digital array | Other | Pass |
| essv9409833 | 36 | SAMN00001580 | Digital array | Other | Pass |
| essv9409833 | 38 | SAMN00001580 | Digital array | Other | Pass |
| essv9409842 | 36 | SAMN00001581 | Digital array | Other | Pass |
| essv9409842 | 38 | SAMN00001581 | Digital array | Other | Pass |
| essv9409826 | 36 | SAMN00001582 | Digital array | Other | Pass |
| essv9409826 | 38 | SAMN00001582 | Digital array | Other | Pass |
| essv9409829 | 36 | SAMN00001583 | Digital array | Other | Pass |
| essv9409829 | 38 | SAMN00001583 | Digital array | Other | Pass |
| essv9409846 | 36 | SAMN00001584 | Digital array | Other | Pass |
| essv9409846 | 38 | SAMN00001584 | Digital array | Other | Pass |
| essv9409789 | 36 | SAMN00001585 | Digital array | Other | Pass |
| essv9409789 | 38 | SAMN00001585 | Digital array | Other | Pass |
| essv9409839 | 36 | SAMN00001590 | Digital array | Other | Pass |
| essv9409839 | 38 | SAMN00001590 | Digital array | Other | Pass |
| essv9409783 | 36 | SAMN00001591 | Digital array | Other | Pass |
| essv9409783 | 38 | SAMN00001591 | Digital array | Other | Pass |
| essv9409830 | 36 | SAMN00001592 | Digital array | Other | Pass |
| essv9409830 | 38 | SAMN00001592 | Digital array | Other | Pass |
| essv9409801 | 36 | SAMN00001596 | Digital array | Other | Pass |
| essv9409801 | 38 | SAMN00001596 | Digital array | Other | Pass |
| essv9409816 | 36 | SAMN00001600 | Digital array | Other | Pass |
| essv9409816 | 38 | SAMN00001600 | Digital array | Other | Pass |
| essv9409844 | 36 | SAMN00001616 | Digital array | Other | Pass |
| essv9409844 | 38 | SAMN00001616 | Digital array | Other | Pass |
| essv9409817 | 36 | SAMN00001617 | Digital array | Other | Pass |
| essv9409817 | 38 | SAMN00001617 | Digital array | Other | Pass |
| essv9409790 | 36 | SAMN00001620 | Digital array | Other | Pass |
| essv9409790 | 38 | SAMN00001620 | Digital array | Other | Pass |
| essv9409786 | 36 | SAMN00001625 | Digital array | Other | Pass |
| essv9409786 | 38 | SAMN00001625 | Digital array | Other | Pass |
| essv9409798 | 36 | SAMN00001628 | Digital array | Other | Pass |
| essv9409798 | 38 | SAMN00001628 | Digital array | Other | Pass |
| essv9409841 | 36 | SAMN00001630 | Digital array | Other | Pass |
| essv9409841 | 38 | SAMN00001630 | Digital array | Other | Pass |
| essv9409824 | 36 | SAMN00001631 | Digital array | Other | Pass |
| essv9409824 | 38 | SAMN00001631 | Digital array | Other | Pass |
| essv9409794 | 36 | SAMN00001632 | Digital array | Other | Pass |
| essv9409794 | 38 | SAMN00001632 | Digital array | Other | Pass |
| essv9409799 | 36 | SAMN00001636 | Digital array | Other | Pass |
| essv9409799 | 38 | SAMN00001636 | Digital array | Other | Pass |
| essv9409779 | 36 | SAMN00001638 | Digital array | Other | Pass |
| essv9409779 | 38 | SAMN00001638 | Digital array | Other | Pass |
| essv9409805 | 36 | SAMN00001639 | Digital array | Other | Pass |
| essv9409805 | 38 | SAMN00001639 | Digital array | Other | Pass |
| essv9409838 | 36 | SAMN00001640 | Digital array | Other | Pass |
| essv9409838 | 38 | SAMN00001640 | Digital array | Other | Pass |
| essv9409837 | 36 | SAMN00001642 | Digital array | Other | Pass |
| essv9409837 | 38 | SAMN00001642 | Digital array | Other | Pass |
| essv9409832 | 36 | SAMN00001645 | Digital array | Other | Pass |
| essv9409832 | 38 | SAMN00001645 | Digital array | Other | Pass |
| essv9409797 | 36 | SAMN00001646 | Digital array | Other | Pass |
| essv9409797 | 38 | SAMN00001646 | Digital array | Other | Pass |
| essv9409827 | 36 | SAMN00001648 | Digital array | Other | Pass |
| essv9409827 | 38 | SAMN00001648 | Digital array | Other | Pass |
| essv9409806 | 36 | SAMN00001649 | Digital array | Other | Pass |
| essv9409806 | 38 | SAMN00001649 | Digital array | Other | Pass |
| essv9409808 | 36 | SAMN00001651 | Digital array | Other | Pass |
| essv9409808 | 38 | SAMN00001651 | Digital array | Other | Pass |
| essv9409788 | 36 | SAMN00001655 | Digital array | Other | Pass |
| essv9409788 | 38 | SAMN00001655 | Digital array | Other | Pass |
| essv9409787 | 36 | SAMN00001657 | Digital array | Other | Pass |
| essv9409787 | 38 | SAMN00001657 | Digital array | Other | Pass |
| essv9409818 | 36 | SAMN00001659 | Digital array | Other | Pass |
| essv9409818 | 38 | SAMN00001659 | Digital array | Other | Pass |
| essv9409777 | 36 | SAMN00001661 | Digital array | Other | Pass |
| essv9409777 | 38 | SAMN00001661 | Digital array | Other | Pass |
| essv9409804 | 36 | SAMN00001663 | Digital array | Other | Pass |
| essv9409804 | 38 | SAMN00001663 | Digital array | Other | Pass |
| essv9409809 | 36 | SAMN00001664 | Digital array | Other | Pass |
| essv9409809 | 38 | SAMN00001664 | Digital array | Other | Pass |
| essv9409785 | 36 | SAMN00001666 | Digital array | Other | Pass |
| essv9409785 | 38 | SAMN00001666 | Digital array | Other | Pass |
| essv9409778 | 36 | SAMN00001667 | Digital array | Other | Pass |
| essv9409778 | 38 | SAMN00001667 | Digital array | Other | Pass |
| essv9409815 | 36 | SAMN00001668 | Digital array | Other | Pass |
| essv9409815 | 38 | SAMN00001668 | Digital array | Other | Pass |
| essv9409831 | 36 | SAMN00001670 | Digital array | Other | Pass |
| essv9409831 | 38 | SAMN00001670 | Digital array | Other | Pass |
| essv9409811 | 36 | SAMN00001671 | Digital array | Other | Pass |
| essv9409811 | 38 | SAMN00001671 | Digital array | Other | Pass |
| essv9409802 | 36 | SAMN00001672 | Digital array | Other | Pass |
| essv9409802 | 38 | SAMN00001672 | Digital array | Other | Pass |
| essv9409795 | 36 | SAMN00001678 | Digital array | Other | Pass |
| essv9409795 | 38 | SAMN00001678 | Digital array | Other | Pass |
| essv9409784 | 36 | SAMN00001679 | Digital array | Other | Pass |
| essv9409784 | 38 | SAMN00001679 | Digital array | Other | Pass |
| essv9409782 | 36 | SAMN00001680 | Digital array | Other | Pass |
| essv9409782 | 38 | SAMN00001680 | Digital array | Other | Pass |
| essv9409807 | 36 | SAMN00001682 | Digital array | Other | Pass |
| essv9409807 | 38 | SAMN00001682 | Digital array | Other | Pass |
| essv9409819 | 36 | SAMN00001685 | Digital array | Other | Pass |
| essv9409819 | 38 | SAMN00001685 | Digital array | Other | Pass |
| essv9409793 | 36 | SAMN00001687 | Digital array | Other | Pass |
| essv9409793 | 38 | SAMN00001687 | Digital array | Other | Pass |
| essv9409821 | 36 | SAMN00001690 | Digital array | Other | Pass |
| essv9409821 | 38 | SAMN00001690 | Digital array | Other | Pass |
| essv9409845 | 36 | SAMN00001691 | Digital array | Other | Pass |
| essv9409845 | 38 | SAMN00001691 | Digital array | Other | Pass |
| essv9409843 | 36 | SAMN00001697 | Digital array | Other | Pass |
| essv9409843 | 38 | SAMN00001697 | Digital array | Other | Pass |
| essv9409840 | 36 | SAMN00797025 | Digital array | Other | Pass |
| essv9409840 | 38 | SAMN00797025 | Digital array | Other | Pass |
| essv9409835 | 36 | SAMN00800266 | Digital array | Other | Pass |
| essv9409835 | 38 | SAMN00800266 | Digital array | Other | Pass |
| essv9409820 | 36 | SAMN00800947 | Digital array | Other | Pass |
| essv9409820 | 38 | SAMN00800947 | Digital array | Other | Pass |
| essv9409776 | 36 | SAMN00801049 | Digital array | Other | Pass |
| essv9409776 | 38 | SAMN00801049 | Digital array | Other | Pass |
| essv9409813 | 36 | SAMN00801680 | Digital array | Other | Pass |
| essv9409813 | 38 | SAMN00801680 | Digital array | Other | Pass |
| essv9409791 | 36 | SAMN00801888 | Digital array | Other | Pass |
| essv9409791 | 38 | SAMN00801888 | Digital array | Other | Pass |
| essv9409828 | 36 | SAMN00801912 | Digital array | Other | Pass |
| essv9409828 | 38 | SAMN00801912 | Digital array | Other | Pass |
| essv9409810 | 36 | SAMN00801914 | Digital array | Other | Pass |
| essv9409810 | 38 | SAMN00801914 | Digital array | Other | Pass |