esv3481251
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Yes
- Clinical Assertions: No
- Region Size:23,053
- 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: 241 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3481251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| esv3481251 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| esv3481251 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7699652 | deletion | SAMN00801027 | Sequencing | Split read mapping | 12,816 |
| essv7699653 | deletion | SAMN00797419 | Sequencing | Split read mapping | 10,938 |
| essv7699654 | deletion | SAMN00001611 | Sequencing | Split read mapping | 14,683 |
| essv7699656 | deletion | SAMN00001649 | Sequencing | Split read mapping | 13,082 |
| essv7699657 | deletion | SAMN00001656 | Sequencing | Split read mapping | 14,238 |
| essv7699658 | deletion | SAMN00797126 | Sequencing | Split read mapping | 11,843 |
| essv7699659 | deletion | SAMN00797054 | Sequencing | Split read mapping | 11,153 |
| essv7699660 | deletion | SAMN00001552 | Sequencing | Split read mapping | 19,162 |
| essv7699661 | deletion | SAMN00001613 | Sequencing | Split read mapping | 15,037 |
| essv7699662 | deletion | SAMN00001610 | Sequencing | Split read mapping | 15,427 |
| essv7699663 | deletion | SAMN00001638 | Sequencing | Split read mapping | 14,476 |
| essv7699664 | deletion | SAMN00001609 | Sequencing | Split read mapping | 14,604 |
| essv7699665 | deletion | SAMN00001647 | Sequencing | Split read mapping | 26,594 |
| essv7699667 | deletion | SAMN00001645 | Sequencing | Split read mapping | 13,185 |
| essv7699668 | deletion | SAMN00801031 | Sequencing | Split read mapping | 9,208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7699652 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699653 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699654 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699656 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699657 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699658 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699659 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699660 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699661 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699662 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699663 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699664 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699665 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699667 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699668 | Remapped | Perfect | NC_000008.11:g.(11 9788538_119788558) _(119811591_119811 610)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 119,788,553 (-15, +5) | 119,811,605 (-14, +5) |
| essv7699652 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699653 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699654 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699656 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699657 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699658 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699659 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699660 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699661 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699662 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699663 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699664 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699665 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699667 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699668 | Remapped | Perfect | NC_000008.10:g.(12 0800778_120800798) _(120823831_120823 850)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 120,800,793 (-15, +5) | 120,823,845 (-14, +5) |
| essv7699652 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699653 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699654 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699656 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699657 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699658 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699659 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699660 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699661 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699662 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699663 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699664 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699665 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699667 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) | ||
| essv7699668 | Submitted genomic | NC_000008.9:g.(120 869959_120869979)_ (120893012_1208930 31)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 120,869,974 (-15, +5) | 120,893,026 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7699660 | 38 | SAMN00001552 | Digital array | Other | Fail |
| essv7699664 | 38 | SAMN00001609 | Digital array | Other | Fail |
| essv7699662 | 38 | SAMN00001610 | Digital array | Other | Fail |
| essv7699654 | 38 | SAMN00001611 | Digital array | Other | Fail |
| essv7699661 | 38 | SAMN00001613 | Digital array | Other | Fail |
| essv7699663 | 38 | SAMN00001638 | Digital array | Other | Fail |
| essv7699667 | 38 | SAMN00001645 | Digital array | Other | Fail |
| essv7699665 | 38 | SAMN00001647 | Digital array | Other | Fail |
| essv7699656 | 38 | SAMN00001649 | Digital array | Other | Fail |
| essv7699657 | 38 | SAMN00001656 | Digital array | Other | Fail |
| essv7699659 | 38 | SAMN00797054 | Digital array | Other | Fail |
| essv7699658 | 38 | SAMN00797126 | Digital array | Other | Fail |
| essv7699653 | 38 | SAMN00797419 | Digital array | Other | Fail |
| essv7699652 | 38 | SAMN00801027 | Digital array | Other | Fail |
| essv7699668 | 38 | SAMN00801031 | Digital array | Other | Fail |
| essv7699660 | 36 | SAMN00001552 | Digital array | Other | Pass |
| essv7699664 | 36 | SAMN00001609 | Digital array | Other | Pass |
| essv7699662 | 36 | SAMN00001610 | Digital array | Other | Pass |
| essv7699654 | 36 | SAMN00001611 | Digital array | Other | Pass |
| essv7699661 | 36 | SAMN00001613 | Digital array | Other | Pass |
| essv7699663 | 36 | SAMN00001638 | Digital array | Other | Pass |
| essv7699667 | 36 | SAMN00001645 | Digital array | Other | Pass |
| essv7699665 | 36 | SAMN00001647 | Digital array | Other | Pass |
| essv7699656 | 36 | SAMN00001649 | Digital array | Other | Pass |
| essv7699657 | 36 | SAMN00001656 | Digital array | Other | Pass |
| essv7699659 | 36 | SAMN00797054 | Digital array | Other | Pass |
| essv7699658 | 36 | SAMN00797126 | Digital array | Other | Pass |
| essv7699653 | 36 | SAMN00797419 | Digital array | Other | Pass |
| essv7699652 | 36 | SAMN00801027 | Digital array | Other | Pass |
| essv7699668 | 36 | SAMN00801031 | Digital array | Other | Pass |
| essv7699660 | 37 | SAMN00001552 | Sequencing | de novo sequence assembly | Pass |
| essv7699664 | 37 | SAMN00001609 | Sequencing | de novo sequence assembly | Pass |
| essv7699662 | 37 | SAMN00001610 | Sequencing | de novo sequence assembly | Pass |
| essv7699654 | 37 | SAMN00001611 | Sequencing | de novo sequence assembly | Pass |
| essv7699661 | 37 | SAMN00001613 | Sequencing | de novo sequence assembly | Pass |
| essv7699663 | 37 | SAMN00001638 | Sequencing | de novo sequence assembly | Pass |
| essv7699667 | 37 | SAMN00001645 | Sequencing | de novo sequence assembly | Pass |
| essv7699665 | 37 | SAMN00001647 | Sequencing | de novo sequence assembly | Pass |
| essv7699656 | 37 | SAMN00001649 | Sequencing | de novo sequence assembly | Pass |
| essv7699657 | 37 | SAMN00001656 | Sequencing | de novo sequence assembly | Pass |
| essv7699659 | 37 | SAMN00797054 | Sequencing | de novo sequence assembly | Pass |
| essv7699658 | 37 | SAMN00797126 | Sequencing | de novo sequence assembly | Pass |
| essv7699653 | 37 | SAMN00797419 | Sequencing | de novo sequence assembly | Pass |
| essv7699652 | 37 | SAMN00801027 | Sequencing | de novo sequence assembly | Pass |
| essv7699668 | 37 | SAMN00801031 | Sequencing | de novo sequence assembly | Pass |