esv2670588
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:25
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,570
- 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: 314 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2670588 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| esv2670588 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5413563 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv5460658 | deletion | SAMN00006526 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,211 |
| essv5464474 | deletion | SAMN00014353 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 748 |
| essv5498183 | deletion | SAMN00006517 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,300 |
| essv5528486 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
| essv5582944 | deletion | SAMN00000510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
| essv5587140 | deletion | SAMN00006589 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,904 |
| essv5589525 | deletion | SAMN00007755 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,123 |
| essv5610615 | deletion | SAMN00014312 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,381 |
| essv5663598 | deletion | SAMN00007807 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,402 |
| essv5680864 | deletion | SAMN00001589 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,492 |
| essv5732006 | deletion | SAMN00007860 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 769 |
| essv5736077 | deletion | SAMN00009123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,809 |
| essv5837549 | deletion | SAMN00006510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv5852091 | deletion | SAMN00014342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,537 |
| essv5908052 | deletion | SAMN00006595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,660 |
| essv5927593 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
| essv5936718 | deletion | SAMN00001140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
| essv5962408 | deletion | SAMN00007761 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 963 |
| essv6039237 | deletion | SAMN00000926 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,337 |
| essv6207104 | deletion | SAMN00000924 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,049 |
| essv6284278 | deletion | SAMN00001656 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,176 |
| essv6385608 | deletion | SAMN00001034 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,111 |
| essv6507901 | deletion | SAMN00001131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
| essv6514045 | deletion | SAMN00007810 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5413563 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5460658 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5464474 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5498183 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5528486 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5582944 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5587140 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5589525 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5610615 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5663598 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5680864 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5732006 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5736077 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5837549 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5852091 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5908052 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5927593 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5936718 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5962408 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6039237 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6207104 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6284278 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6385608 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6507901 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv6514045 | Remapped | Perfect | NC_000009.12:g.104 603984_104616553de lC | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,603,984 | 104,616,553 |
| essv5413563 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5460658 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5464474 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5498183 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5528486 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5582944 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5587140 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5589525 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5610615 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5663598 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5680864 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5732006 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5736077 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5837549 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5852091 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5908052 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5927593 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5936718 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv5962408 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6039237 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6207104 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6284278 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6385608 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6507901 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 | ||
| essv6514045 | Submitted genomic | NC_000009.11:g.107 366265_107378834de lC | GRCh37 (hg19) | NC_000009.11 | Chr9 | 107,366,265 | 107,378,834 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5582944 | 7 | SAMN00000510 | SNP array | Probe signal intensity | Pass |
| essv5413563 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv6207104 | 7 | SAMN00000924 | SNP array | Probe signal intensity | Pass |
| essv6039237 | 7 | SAMN00000926 | SNP array | Probe signal intensity | Pass |
| essv6385608 | 7 | SAMN00001034 | SNP array | Probe signal intensity | Pass |
| essv6507901 | 7 | SAMN00001131 | SNP array | Probe signal intensity | Pass |
| essv5936718 | 7 | SAMN00001140 | SNP array | Probe signal intensity | Pass |
| essv5680864 | 7 | SAMN00001589 | SNP array | Probe signal intensity | Pass |
| essv6284278 | 7 | SAMN00001656 | SNP array | Probe signal intensity | Pass |
| essv5927593 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
| essv5837549 | 7 | SAMN00006510 | SNP array | Probe signal intensity | Pass |
| essv5498183 | 7 | SAMN00006517 | SNP array | Probe signal intensity | Pass |
| essv5460658 | 7 | SAMN00006526 | SNP array | Probe signal intensity | Pass |
| essv5528486 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |
| essv5587140 | 7 | SAMN00006589 | SNP array | Probe signal intensity | Pass |
| essv5908052 | 7 | SAMN00006595 | SNP array | Probe signal intensity | Pass |
| essv5589525 | 7 | SAMN00007755 | SNP array | Probe signal intensity | Pass |
| essv5962408 | 7 | SAMN00007761 | SNP array | Probe signal intensity | Pass |
| essv5663598 | 7 | SAMN00007807 | SNP array | Probe signal intensity | Pass |
| essv6514045 | 7 | SAMN00007810 | SNP array | Probe signal intensity | Pass |
| essv5732006 | 7 | SAMN00007860 | SNP array | Probe signal intensity | Pass |
| essv5736077 | 7 | SAMN00009123 | SNP array | Probe signal intensity | Pass |
| essv5610615 | 7 | SAMN00014312 | SNP array | Probe signal intensity | Pass |
| essv5852091 | 7 | SAMN00014342 | SNP array | Probe signal intensity | Pass |
| essv5464474 | 7 | SAMN00014353 | SNP array | Probe signal intensity | Pass |