esv2667697
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:42
- Validation:Yes
- Clinical Assertions: No
- Region Size:29,033
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 1502 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1287 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1422 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2667697 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| esv2667697 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| esv2667697 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5513514 | deletion | SAMN00801802 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,214 |
| essv5565736 | deletion | SAMN00001639 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,246 |
| essv5646226 | deletion | SAMN00800969 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
| essv5650888 | deletion | SAMN00001315 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 700 |
| essv5653022 | deletion | SAMN00006377 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,610 |
| essv5653384 | deletion | SAMN00014314 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,733 |
| essv5664293 | deletion | SAMN00006359 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
| essv5686302 | deletion | SAMN00000428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,733 |
| essv5711318 | deletion | SAMN00006386 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,723 |
| essv5730148 | deletion | SAMN00001649 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,053 |
| essv5733363 | deletion | SAMN00001612 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,456 |
| essv5781111 | deletion | SAMN00801105 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,002 |
| essv5783928 | deletion | SAMN00000452 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,154 |
| essv5858625 | deletion | SAMN00006360 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,579 |
| essv5924066 | deletion | SAMN00006453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,472 |
| essv5929781 | deletion | SAMN00801804 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 979 |
| essv5962726 | deletion | SAMN00001621 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,225 |
| essv5997798 | deletion | SAMN00001305 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 955 |
| essv6015410 | deletion | SAMN00006439 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,754 |
| essv6053466 | deletion | SAMN00001223 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 962 |
| essv6184478 | deletion | SAMN00006398 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,645 |
| essv6194550 | deletion | SAMN00797023 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 112 |
| essv6241762 | deletion | SAMN00000420 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,470 |
| essv6258532 | deletion | SAMN00001307 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
| essv6270779 | deletion | SAMN00001277 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 830 |
| essv6312751 | deletion | SAMN00006372 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,554 |
| essv6315433 | deletion | SAMN00001656 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,176 |
| essv6331628 | deletion | SAMN00001233 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
| essv6347401 | deletion | SAMN00001157 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
| essv6374998 | deletion | SAMN00801372 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 974 |
| essv6389209 | deletion | SAMN00001678 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,467 |
| essv6400229 | deletion | SAMN00001641 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,148 |
| essv6401287 | deletion | SAMN00000410 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,104 |
| essv6404831 | deletion | SAMN00001314 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 746 |
| essv6422619 | deletion | SAMN00004655 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
| essv6465007 | deletion | SAMN00001610 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,385 |
| essv6488209 | deletion | SAMN00000476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv6505663 | deletion | SAMN00000459 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,590 |
| essv6507874 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
| essv6514495 | deletion | SAMN00001304 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 883 |
| essv6569209 | deletion | SAMN00004657 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,536 |
| essv6583654 | deletion | SAMN00009120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5513514 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5565736 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5646226 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5650888 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5653022 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5653384 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5664293 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5686302 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5711318 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5730148 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5733363 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5781111 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5783928 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5858625 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5924066 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5929781 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5962726 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5997798 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6015410 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6053466 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6184478 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6194550 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6241762 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6258532 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6270779 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6312751 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6315433 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6331628 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6347401 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6374998 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6389209 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6400229 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6401287 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6404831 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6422619 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6465007 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6488209 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6505663 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6507874 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6514495 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6569209 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv6583654 | Remapped | Perfect | NT_187562.1:g.2763 6_56668delC | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,636 | 56,668 |
| essv5513514 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5565736 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5646226 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5650888 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5653022 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5653384 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5664293 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5686302 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5711318 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5730148 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5733363 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5781111 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5783928 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5858625 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5924066 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5929781 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5962726 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5997798 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6015410 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6053466 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6184478 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6194550 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6241762 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6258532 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6270779 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6312751 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6315433 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6331628 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6347401 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6374998 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6389209 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6400229 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6401287 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6404831 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6422619 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6465007 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6488209 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6505663 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6507874 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6514495 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6569209 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv6583654 | Remapped | Perfect | NC_000007.14:g.142 065756_142094788de lC | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,756 | 142,094,788 |
| essv5513514 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5565736 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5646226 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5650888 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5653022 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5653384 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5664293 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5686302 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5711318 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5730148 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5733363 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5781111 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5783928 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5858625 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5924066 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 | ||
| essv5929781 | Submitted genomic | NC_000007.13:g.141 765556_141794588de lC | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,765,556 | 141,794,588 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6401287 | 9 | SAMN00000410 | Oligo aCGH | Probe signal intensity | Pass |
| essv6241762 | 9 | SAMN00000420 | Oligo aCGH | Probe signal intensity | Pass |
| essv5686302 | 9 | SAMN00000428 | Oligo aCGH | Probe signal intensity | Pass |
| essv5783928 | 9 | SAMN00000452 | Oligo aCGH | Probe signal intensity | Pass |
| essv6505663 | 9 | SAMN00000459 | Oligo aCGH | Probe signal intensity | Pass |
| essv6488209 | 9 | SAMN00000476 | Oligo aCGH | Probe signal intensity | Pass |
| essv6347401 | 9 | SAMN00001157 | Oligo aCGH | Probe signal intensity | Pass |
| essv6053466 | 9 | SAMN00001223 | Oligo aCGH | Probe signal intensity | Pass |
| essv6331628 | 9 | SAMN00001233 | Oligo aCGH | Probe signal intensity | Pass |
| essv6270779 | 9 | SAMN00001277 | Oligo aCGH | Probe signal intensity | Pass |
| essv6514495 | 9 | SAMN00001304 | Oligo aCGH | Probe signal intensity | Pass |
| essv5997798 | 9 | SAMN00001305 | Oligo aCGH | Probe signal intensity | Pass |
| essv6258532 | 9 | SAMN00001307 | Oligo aCGH | Probe signal intensity | Pass |
| essv6404831 | 9 | SAMN00001314 | Oligo aCGH | Probe signal intensity | Pass |
| essv5650888 | 9 | SAMN00001315 | Oligo aCGH | Probe signal intensity | Pass |
| essv6465007 | 9 | SAMN00001610 | Oligo aCGH | Probe signal intensity | Pass |
| essv5733363 | 9 | SAMN00001612 | Oligo aCGH | Probe signal intensity | Pass |
| essv5962726 | 9 | SAMN00001621 | Oligo aCGH | Probe signal intensity | Pass |
| essv5565736 | 9 | SAMN00001639 | Oligo aCGH | Probe signal intensity | Pass |
| essv6400229 | 9 | SAMN00001641 | Oligo aCGH | Probe signal intensity | Pass |
| essv5730148 | 9 | SAMN00001649 | Oligo aCGH | Probe signal intensity | Pass |
| essv6315433 | 9 | SAMN00001656 | Oligo aCGH | Probe signal intensity | Pass |
| essv6389209 | 9 | SAMN00001678 | Oligo aCGH | Probe signal intensity | Pass |
| essv6422619 | 9 | SAMN00004655 | Oligo aCGH | Probe signal intensity | Pass |
| essv6569209 | 9 | SAMN00004657 | Oligo aCGH | Probe signal intensity | Pass |
| essv5664293 | 9 | SAMN00006359 | Oligo aCGH | Probe signal intensity | Pass |
| essv5858625 | 9 | SAMN00006360 | Oligo aCGH | Probe signal intensity | Pass |
| essv6312751 | 9 | SAMN00006372 | Oligo aCGH | Probe signal intensity | Pass |
| essv5653022 | 9 | SAMN00006377 | Oligo aCGH | Probe signal intensity | Pass |
| essv5711318 | 9 | SAMN00006386 | Oligo aCGH | Probe signal intensity | Pass |
| essv6184478 | 9 | SAMN00006398 | Oligo aCGH | Probe signal intensity | Pass |
| essv6015410 | 9 | SAMN00006439 | Oligo aCGH | Probe signal intensity | Pass |
| essv5924066 | 9 | SAMN00006453 | Oligo aCGH | Probe signal intensity | Pass |
| essv6507874 | 9 | SAMN00006561 | Oligo aCGH | Probe signal intensity | Pass |
| essv6583654 | 9 | SAMN00009120 | Oligo aCGH | Probe signal intensity | Pass |
| essv5653384 | 9 | SAMN00014314 | Oligo aCGH | Probe signal intensity | Pass |
| essv6194550 | 9 | SAMN00797023 | Oligo aCGH | Probe signal intensity | Pass |
| essv5646226 | 9 | SAMN00800969 | Oligo aCGH | Probe signal intensity | Pass |
| essv5781111 | 9 | SAMN00801105 | Oligo aCGH | Probe signal intensity | Pass |
| essv6374998 | 9 | SAMN00801372 | Oligo aCGH | Probe signal intensity | Pass |
| essv5513514 | 9 | SAMN00801802 | Oligo aCGH | Probe signal intensity | Pass |
| essv5929781 | 9 | SAMN00801804 | Oligo aCGH | Probe signal intensity | Pass |
| essv6401287 | 7 | SAMN00000410 | SNP array | Probe signal intensity | Pass |
| essv6241762 | 7 | SAMN00000420 | SNP array | Probe signal intensity | Pass |
| essv5686302 | 7 | SAMN00000428 | SNP array | Probe signal intensity | Pass |
| essv5783928 | 7 | SAMN00000452 | SNP array | Probe signal intensity | Pass |
| essv6505663 | 7 | SAMN00000459 | SNP array | Probe signal intensity | Pass |
| essv6488209 | 7 | SAMN00000476 | SNP array | Probe signal intensity | Pass |
| essv6347401 | 7 | SAMN00001157 | SNP array | Probe signal intensity | Pass |
| essv6053466 | 7 | SAMN00001223 | SNP array | Probe signal intensity | Pass |
| essv6331628 | 7 | SAMN00001233 | SNP array | Probe signal intensity | Pass |
| essv6270779 | 7 | SAMN00001277 | SNP array | Probe signal intensity | Pass |
| essv6514495 | 7 | SAMN00001304 | SNP array | Probe signal intensity | Pass |
| essv5997798 | 7 | SAMN00001305 | SNP array | Probe signal intensity | Pass |
| essv6258532 | 7 | SAMN00001307 | SNP array | Probe signal intensity | Pass |
| essv6404831 | 7 | SAMN00001314 | SNP array | Probe signal intensity | Pass |
| essv5650888 | 7 | SAMN00001315 | SNP array | Probe signal intensity | Pass |
| essv6465007 | 7 | SAMN00001610 | SNP array | Probe signal intensity | Pass |
| essv5733363 | 7 | SAMN00001612 | SNP array | Probe signal intensity | Pass |
| essv5962726 | 7 | SAMN00001621 | SNP array | Probe signal intensity | Pass |
| essv5565736 | 7 | SAMN00001639 | SNP array | Probe signal intensity | Pass |
| essv6400229 | 7 | SAMN00001641 | SNP array | Probe signal intensity | Pass |
| essv5730148 | 7 | SAMN00001649 | SNP array | Probe signal intensity | Pass |
| essv6315433 | 7 | SAMN00001656 | SNP array | Probe signal intensity | Pass |
| essv6389209 | 7 | SAMN00001678 | SNP array | Probe signal intensity | Pass |
| essv6422619 | 7 | SAMN00004655 | SNP array | Probe signal intensity | Pass |
| essv6569209 | 7 | SAMN00004657 | SNP array | Probe signal intensity | Pass |
| essv5664293 | 7 | SAMN00006359 | SNP array | Probe signal intensity | Pass |
| essv5858625 | 7 | SAMN00006360 | SNP array | Probe signal intensity | Pass |
| essv6312751 | 7 | SAMN00006372 | SNP array | Probe signal intensity | Pass |
| essv5653022 | 7 | SAMN00006377 | SNP array | Probe signal intensity | Pass |
| essv5711318 | 7 | SAMN00006386 | SNP array | Probe signal intensity | Pass |
| essv6184478 | 7 | SAMN00006398 | SNP array | Probe signal intensity | Pass |
| essv6015410 | 7 | SAMN00006439 | SNP array | Probe signal intensity | Pass |
| essv5924066 | 7 | SAMN00006453 | SNP array | Probe signal intensity | Pass |
| essv6507874 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |
| essv6583654 | 7 | SAMN00009120 | SNP array | Probe signal intensity | Pass |
| essv5653384 | 7 | SAMN00014314 | SNP array | Probe signal intensity | Pass |
| essv6194550 | 7 | SAMN00797023 | SNP array | Probe signal intensity | Pass |
| essv5646226 | 7 | SAMN00800969 | SNP array | Probe signal intensity | Pass |
| essv5781111 | 7 | SAMN00801105 | SNP array | Probe signal intensity | Pass |
| essv6374998 | 7 | SAMN00801372 | SNP array | Probe signal intensity | Pass |
| essv5513514 | 7 | SAMN00801802 | SNP array | Probe signal intensity | Pass |
| essv5929781 | 7 | SAMN00801804 | SNP array | Probe signal intensity | Pass |