esv3481280
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:50
- Validation:Yes
- Clinical Assertions: No
- Region Size:32,709
- 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: 215 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3481280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| esv3481280 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| esv3481280 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 141,181,116 (-15, +5) | 141,213,824 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7700685 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
| essv7700686 | deletion | SAMN00001564 | Sequencing | Split read mapping | 9,310 |
| essv7700688 | deletion | SAMN00801704 | Sequencing | Split read mapping | 16,979 |
| essv7700689 | deletion | SAMN00001631 | Sequencing | Split read mapping | 9,100 |
| essv7700690 | deletion | SAMN00801241 | Sequencing | Split read mapping | 14,163 |
| essv7700691 | deletion | SAMN00001546 | Sequencing | Split read mapping | 15,275 |
| essv7700692 | deletion | SAMN00801912 | Sequencing | Split read mapping | 25,841 |
| essv7700693 | deletion | SAMN00001548 | Sequencing | Split read mapping | 9,117 |
| essv7700694 | deletion | SAMN00801708 | Sequencing | Split read mapping | 16,085 |
| essv7700695 | deletion | SAMN00797406 | Sequencing | Split read mapping | 9,724 |
| essv7700696 | deletion | SAMN00001594 | Sequencing | Split read mapping | 12,936 |
| essv7700697 | deletion | SAMN00800947 | Sequencing | Split read mapping | 10,286 |
| essv7700699 | deletion | SAMN00001556 | Sequencing | Split read mapping | 17,127 |
| essv7700700 | deletion | SAMN00001619 | Sequencing | Split read mapping | 14,368 |
| essv7700701 | deletion | SAMN00001591 | Sequencing | Split read mapping | 13,341 |
| essv7700702 | deletion | SAMN00001663 | Sequencing | Split read mapping | 12,931 |
| essv7700703 | deletion | SAMN00001642 | Sequencing | Split read mapping | 13,338 |
| essv7700704 | deletion | SAMN00801237 | Sequencing | Split read mapping | 9,493 |
| essv7700705 | deletion | SAMN00801680 | Sequencing | Split read mapping | 19,937 |
| essv7700706 | deletion | SAMN00001596 | Sequencing | Split read mapping | 14,505 |
| essv7700707 | deletion | SAMN00801051 | Sequencing | Split read mapping | 14,990 |
| essv7700708 | deletion | SAMN00001692 | Sequencing | Split read mapping | 5,009 |
| essv7700710 | deletion | SAMN00001609 | Sequencing | Split read mapping | 14,604 |
| essv7700711 | deletion | SAMN00001645 | Sequencing | Split read mapping | 13,185 |
| essv7700712 | deletion | SAMN00001626 | Sequencing | Split read mapping | 11,564 |
| essv7700713 | deletion | SAMN00797154 | Sequencing | Split read mapping | 12,042 |
| essv7700714 | deletion | SAMN00800266 | Sequencing | Split read mapping | 11,909 |
| essv7700715 | deletion | SAMN00001665 | Sequencing | Split read mapping | 11,494 |
| essv7700716 | deletion | SAMN00001671 | Sequencing | Split read mapping | 10,275 |
| essv7700717 | deletion | SAMN00001588 | Sequencing | Split read mapping | 10,183 |
| essv7700718 | deletion | SAMN00004417 | Sequencing | Split read mapping | 8,314 |
| essv7700719 | deletion | SAMN00001597 | Sequencing | Split read mapping | 14,192 |
| essv7700721 | deletion | SAMN00001610 | Sequencing | Split read mapping | 15,427 |
| essv7700722 | deletion | SAMN00801055 | Sequencing | Split read mapping | 13,732 |
| essv7700723 | deletion | SAMN00801053 | Sequencing | Split read mapping | 3,233 |
| essv7700724 | deletion | SAMN00001636 | Sequencing | Split read mapping | 14,366 |
| essv7700725 | deletion | SAMN00001630 | Sequencing | Split read mapping | 10,735 |
| essv7700726 | deletion | SAMN00001660 | Sequencing | Split read mapping | 13,045 |
| essv7700727 | deletion | SAMN00001607 | Sequencing | Split read mapping | 9,760 |
| essv7700728 | deletion | SAMN00001585 | Sequencing | Split read mapping | 11,247 |
| essv7700729 | deletion | SAMN00001592 | Sequencing | Split read mapping | 12,716 |
| essv7700730 | deletion | SAMN00001632 | Sequencing | Split read mapping | 10,836 |
| essv7700732 | deletion | SAMN00001622 | Sequencing | Split read mapping | 10,424 |
| essv7700733 | deletion | SAMN00800258 | Sequencing | Split read mapping | 12,098 |
| essv7700734 | deletion | SAMN00001601 | Sequencing | Split read mapping | 14,986 |
| essv7700735 | deletion | SAMN00001580 | Sequencing | Split read mapping | 12,837 |
| essv7700736 | deletion | SAMN00801684 | Sequencing | Split read mapping | 16,980 |
| essv7700737 | deletion | SAMN00001586 | Sequencing | Split read mapping | 8,856 |
| essv7700738 | deletion | SAMN00801914 | Sequencing | Split read mapping | 26,039 |
| essv7700739 | deletion | SAMN00001639 | Sequencing | Split read mapping | 14,223 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7700685 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700686 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700688 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700689 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700690 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700691 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700692 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700693 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700694 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700695 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700696 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700697 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700699 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700700 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700701 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700702 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700703 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700704 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700705 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700706 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700707 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700708 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700710 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700711 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700712 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700713 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700714 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700715 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700716 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700717 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700718 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700719 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700721 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700722 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700723 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700724 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700725 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700726 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700727 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700728 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700729 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700730 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700732 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700733 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700734 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700735 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700736 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700737 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700738 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700739 | Remapped | Perfect | NC_000008.11:g.(14 0101820_140101840) _(140134529_140134 548)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 140,101,835 (-15, +5) | 140,134,543 (-14, +5) |
| essv7700685 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700686 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700688 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700689 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700690 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700691 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700692 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700693 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700694 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700695 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700696 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700697 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700699 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700700 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700701 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700702 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700703 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700704 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700705 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700706 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700707 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700708 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700710 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700711 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700712 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700713 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700714 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700715 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700716 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700717 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700718 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700719 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700721 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700722 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700723 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700724 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700725 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700726 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700727 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700728 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700729 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700730 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700732 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700733 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700734 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700735 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700736 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700737 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700738 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
| essv7700739 | Remapped | Perfect | NC_000008.10:g.(14 1111919_141111939) _(141144628_141144 647)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 141,111,934 (-15, +5) | 141,144,642 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7700691 | 36 | SAMN00001546 | Digital array | Other | Fail |
| essv7700691 | 38 | SAMN00001546 | Digital array | Other | Fail |
| essv7700693 | 36 | SAMN00001548 | Digital array | Other | Fail |
| essv7700693 | 38 | SAMN00001548 | Digital array | Other | Fail |
| essv7700699 | 36 | SAMN00001556 | Digital array | Other | Fail |
| essv7700699 | 38 | SAMN00001556 | Digital array | Other | Fail |
| essv7700686 | 36 | SAMN00001564 | Digital array | Other | Fail |
| essv7700686 | 38 | SAMN00001564 | Digital array | Other | Fail |
| essv7700735 | 36 | SAMN00001580 | Digital array | Other | Fail |
| essv7700735 | 38 | SAMN00001580 | Digital array | Other | Fail |
| essv7700728 | 36 | SAMN00001585 | Digital array | Other | Fail |
| essv7700728 | 38 | SAMN00001585 | Digital array | Other | Fail |
| essv7700737 | 36 | SAMN00001586 | Digital array | Other | Fail |
| essv7700737 | 38 | SAMN00001586 | Digital array | Other | Fail |
| essv7700717 | 36 | SAMN00001588 | Digital array | Other | Fail |
| essv7700717 | 38 | SAMN00001588 | Digital array | Other | Fail |
| essv7700701 | 36 | SAMN00001591 | Digital array | Other | Fail |
| essv7700701 | 38 | SAMN00001591 | Digital array | Other | Fail |
| essv7700729 | 36 | SAMN00001592 | Digital array | Other | Fail |
| essv7700729 | 38 | SAMN00001592 | Digital array | Other | Fail |
| essv7700696 | 36 | SAMN00001594 | Digital array | Other | Fail |
| essv7700696 | 38 | SAMN00001594 | Digital array | Other | Fail |
| essv7700706 | 36 | SAMN00001596 | Digital array | Other | Fail |
| essv7700706 | 38 | SAMN00001596 | Digital array | Other | Fail |
| essv7700719 | 36 | SAMN00001597 | Digital array | Other | Fail |
| essv7700719 | 38 | SAMN00001597 | Digital array | Other | Fail |
| essv7700734 | 36 | SAMN00001601 | Digital array | Other | Fail |
| essv7700734 | 38 | SAMN00001601 | Digital array | Other | Fail |
| essv7700727 | 36 | SAMN00001607 | Digital array | Other | Fail |
| essv7700727 | 38 | SAMN00001607 | Digital array | Other | Fail |
| essv7700710 | 36 | SAMN00001609 | Digital array | Other | Fail |
| essv7700710 | 38 | SAMN00001609 | Digital array | Other | Fail |
| essv7700721 | 36 | SAMN00001610 | Digital array | Other | Fail |
| essv7700721 | 38 | SAMN00001610 | Digital array | Other | Fail |
| essv7700700 | 36 | SAMN00001619 | Digital array | Other | Fail |
| essv7700700 | 38 | SAMN00001619 | Digital array | Other | Fail |
| essv7700732 | 36 | SAMN00001622 | Digital array | Other | Fail |
| essv7700732 | 38 | SAMN00001622 | Digital array | Other | Fail |
| essv7700712 | 36 | SAMN00001626 | Digital array | Other | Fail |
| essv7700712 | 38 | SAMN00001626 | Digital array | Other | Fail |
| essv7700725 | 36 | SAMN00001630 | Digital array | Other | Fail |
| essv7700725 | 38 | SAMN00001630 | Digital array | Other | Fail |
| essv7700689 | 36 | SAMN00001631 | Digital array | Other | Fail |
| essv7700689 | 38 | SAMN00001631 | Digital array | Other | Fail |
| essv7700730 | 36 | SAMN00001632 | Digital array | Other | Fail |
| essv7700730 | 38 | SAMN00001632 | Digital array | Other | Fail |
| essv7700724 | 36 | SAMN00001636 | Digital array | Other | Fail |
| essv7700724 | 38 | SAMN00001636 | Digital array | Other | Fail |
| essv7700739 | 36 | SAMN00001639 | Digital array | Other | Fail |
| essv7700739 | 38 | SAMN00001639 | Digital array | Other | Fail |
| essv7700703 | 36 | SAMN00001642 | Digital array | Other | Fail |
| essv7700703 | 38 | SAMN00001642 | Digital array | Other | Fail |
| essv7700711 | 36 | SAMN00001645 | Digital array | Other | Fail |
| essv7700711 | 38 | SAMN00001645 | Digital array | Other | Fail |
| essv7700726 | 36 | SAMN00001660 | Digital array | Other | Fail |
| essv7700726 | 38 | SAMN00001660 | Digital array | Other | Fail |
| essv7700702 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv7700702 | 38 | SAMN00001663 | Digital array | Other | Fail |
| essv7700715 | 36 | SAMN00001665 | Digital array | Other | Fail |
| essv7700715 | 38 | SAMN00001665 | Digital array | Other | Fail |
| essv7700716 | 36 | SAMN00001671 | Digital array | Other | Fail |
| essv7700716 | 38 | SAMN00001671 | Digital array | Other | Fail |
| essv7700708 | 36 | SAMN00001692 | Digital array | Other | Fail |
| essv7700708 | 38 | SAMN00001692 | Digital array | Other | Fail |
| essv7700718 | 36 | SAMN00004417 | Digital array | Other | Fail |
| essv7700718 | 38 | SAMN00004417 | Digital array | Other | Fail |
| essv7700713 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv7700713 | 38 | SAMN00797154 | Digital array | Other | Fail |
| essv7700695 | 36 | SAMN00797406 | Digital array | Other | Fail |
| essv7700695 | 38 | SAMN00797406 | Digital array | Other | Fail |
| essv7700733 | 36 | SAMN00800258 | Digital array | Other | Fail |
| essv7700733 | 38 | SAMN00800258 | Digital array | Other | Fail |
| essv7700714 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv7700714 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv7700697 | 36 | SAMN00800947 | Digital array | Other | Fail |
| essv7700697 | 38 | SAMN00800947 | Digital array | Other | Fail |
| essv7700707 | 36 | SAMN00801051 | Digital array | Other | Fail |
| essv7700707 | 38 | SAMN00801051 | Digital array | Other | Fail |
| essv7700723 | 36 | SAMN00801053 | Digital array | Other | Fail |
| essv7700723 | 38 | SAMN00801053 | Digital array | Other | Fail |
| essv7700722 | 36 | SAMN00801055 | Digital array | Other | Fail |
| essv7700722 | 38 | SAMN00801055 | Digital array | Other | Fail |
| essv7700704 | 36 | SAMN00801237 | Digital array | Other | Fail |
| essv7700704 | 38 | SAMN00801237 | Digital array | Other | Fail |
| essv7700690 | 36 | SAMN00801241 | Digital array | Other | Fail |
| essv7700690 | 38 | SAMN00801241 | Digital array | Other | Fail |
| essv7700705 | 36 | SAMN00801680 | Digital array | Other | Fail |
| essv7700705 | 38 | SAMN00801680 | Digital array | Other | Fail |
| essv7700736 | 36 | SAMN00801684 | Digital array | Other | Fail |
| essv7700736 | 38 | SAMN00801684 | Digital array | Other | Fail |
| essv7700688 | 36 | SAMN00801704 | Digital array | Other | Fail |
| essv7700688 | 38 | SAMN00801704 | Digital array | Other | Fail |
| essv7700694 | 36 | SAMN00801708 | Digital array | Other | Fail |
| essv7700694 | 38 | SAMN00801708 | Digital array | Other | Fail |
| essv7700685 | 36 | SAMN00801888 | Digital array | Other | Fail |
| essv7700685 | 38 | SAMN00801888 | Digital array | Other | Fail |
| essv7700692 | 36 | SAMN00801912 | Digital array | Other | Fail |
| essv7700692 | 38 | SAMN00801912 | Digital array | Other | Fail |
| essv7700738 | 36 | SAMN00801914 | Digital array | Other | Fail |
| essv7700738 | 38 | SAMN00801914 | Digital array | Other | Fail |
| essv7700691 | 37 | SAMN00001546 | Sequencing | de novo sequence assembly | Pass |
| essv7700693 | 37 | SAMN00001548 | Sequencing | de novo sequence assembly | Pass |
| essv7700699 | 37 | SAMN00001556 | Sequencing | de novo sequence assembly | Pass |
| essv7700686 | 37 | SAMN00001564 | Sequencing | de novo sequence assembly | Pass |
| essv7700735 | 37 | SAMN00001580 | Sequencing | de novo sequence assembly | Pass |
| essv7700728 | 37 | SAMN00001585 | Sequencing | de novo sequence assembly | Pass |
| essv7700737 | 37 | SAMN00001586 | Sequencing | de novo sequence assembly | Pass |
| essv7700717 | 37 | SAMN00001588 | Sequencing | de novo sequence assembly | Pass |
| essv7700701 | 37 | SAMN00001591 | Sequencing | de novo sequence assembly | Pass |
| essv7700729 | 37 | SAMN00001592 | Sequencing | de novo sequence assembly | Pass |
| essv7700696 | 37 | SAMN00001594 | Sequencing | de novo sequence assembly | Pass |
| essv7700706 | 37 | SAMN00001596 | Sequencing | de novo sequence assembly | Pass |
| essv7700719 | 37 | SAMN00001597 | Sequencing | de novo sequence assembly | Pass |
| essv7700734 | 37 | SAMN00001601 | Sequencing | de novo sequence assembly | Pass |
| essv7700727 | 37 | SAMN00001607 | Sequencing | de novo sequence assembly | Pass |
| essv7700710 | 37 | SAMN00001609 | Sequencing | de novo sequence assembly | Pass |
| essv7700721 | 37 | SAMN00001610 | Sequencing | de novo sequence assembly | Pass |
| essv7700700 | 37 | SAMN00001619 | Sequencing | de novo sequence assembly | Pass |
| essv7700732 | 37 | SAMN00001622 | Sequencing | de novo sequence assembly | Pass |
| essv7700712 | 37 | SAMN00001626 | Sequencing | de novo sequence assembly | Pass |
| essv7700725 | 37 | SAMN00001630 | Sequencing | de novo sequence assembly | Pass |
| essv7700689 | 37 | SAMN00001631 | Sequencing | de novo sequence assembly | Pass |
| essv7700730 | 37 | SAMN00001632 | Sequencing | de novo sequence assembly | Pass |
| essv7700724 | 37 | SAMN00001636 | Sequencing | de novo sequence assembly | Pass |
| essv7700739 | 37 | SAMN00001639 | Sequencing | de novo sequence assembly | Pass |
| essv7700703 | 37 | SAMN00001642 | Sequencing | de novo sequence assembly | Pass |
| essv7700711 | 37 | SAMN00001645 | Sequencing | de novo sequence assembly | Pass |
| essv7700726 | 37 | SAMN00001660 | Sequencing | de novo sequence assembly | Pass |
| essv7700702 | 37 | SAMN00001663 | Sequencing | de novo sequence assembly | Pass |
| essv7700715 | 37 | SAMN00001665 | Sequencing | de novo sequence assembly | Pass |
| essv7700716 | 37 | SAMN00001671 | Sequencing | de novo sequence assembly | Pass |
| essv7700708 | 37 | SAMN00001692 | Sequencing | de novo sequence assembly | Pass |
| essv7700718 | 37 | SAMN00004417 | Sequencing | de novo sequence assembly | Pass |
| essv7700713 | 37 | SAMN00797154 | Sequencing | de novo sequence assembly | Pass |
| essv7700695 | 37 | SAMN00797406 | Sequencing | de novo sequence assembly | Pass |
| essv7700733 | 37 | SAMN00800258 | Sequencing | de novo sequence assembly | Pass |
| essv7700714 | 37 | SAMN00800266 | Sequencing | de novo sequence assembly | Pass |
| essv7700697 | 37 | SAMN00800947 | Sequencing | de novo sequence assembly | Pass |
| essv7700707 | 37 | SAMN00801051 | Sequencing | de novo sequence assembly | Pass |
| essv7700723 | 37 | SAMN00801053 | Sequencing | de novo sequence assembly | Pass |
| essv7700722 | 37 | SAMN00801055 | Sequencing | de novo sequence assembly | Pass |
| essv7700704 | 37 | SAMN00801237 | Sequencing | de novo sequence assembly | Pass |
| essv7700690 | 37 | SAMN00801241 | Sequencing | de novo sequence assembly | Pass |
| essv7700705 | 37 | SAMN00801680 | Sequencing | de novo sequence assembly | Pass |
| essv7700736 | 37 | SAMN00801684 | Sequencing | de novo sequence assembly | Pass |
| essv7700688 | 37 | SAMN00801704 | Sequencing | de novo sequence assembly | Pass |
| essv7700694 | 37 | SAMN00801708 | Sequencing | de novo sequence assembly | Pass |
| essv7700685 | 37 | SAMN00801888 | Sequencing | de novo sequence assembly | Pass |
| essv7700692 | 37 | SAMN00801912 | Sequencing | de novo sequence assembly | Pass |
| essv7700738 | 37 | SAMN00801914 | Sequencing | de novo sequence assembly | Pass |