esv2658667
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,348
- 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: 268 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2658667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| esv2658667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5444090 | deletion | SAMN00000565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,221 |
| essv5593364 | deletion | SAMN00001665 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,385 |
| essv5614761 | deletion | SAMN00001586 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,356 |
| essv5633339 | deletion | SAMN00001666 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv5705595 | deletion | SAMN00001587 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv5719679 | deletion | SAMN00000414 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,260 |
| essv5738082 | deletion | SAMN00000566 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 947 |
| essv5753428 | deletion | SAMN00001627 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,454 |
| essv5760960 | deletion | SAMN00000482 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 982 |
| essv5799398 | deletion | SAMN00000573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv5846582 | deletion | SAMN00001630 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,448 |
| essv5860382 | deletion | SAMN00001632 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,311 |
| essv5874883 | deletion | SAMN00000474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,357 |
| essv6036118 | deletion | SAMN00001683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 863 |
| essv6082837 | deletion | SAMN00000483 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,009 |
| essv6149609 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv6206680 | deletion | SAMN00000477 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,250 |
| essv6224826 | deletion | SAMN00001623 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
| essv6318298 | deletion | SAMN00000575 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
| essv6339236 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv6412596 | deletion | SAMN00001672 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 855 |
| essv6413213 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv6475885 | deletion | SAMN00001684 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5444090 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5593364 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5614761 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5633339 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5705595 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5719679 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5738082 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5753428 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5760960 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5799398 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5846582 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5860382 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5874883 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6036118 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6082837 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6149609 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6206680 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6224826 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6318298 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6339236 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6412596 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6413213 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv6475885 | Remapped | Perfect | NC_000010.11:g.(12 1010132_121010503) _(121029109_121029 479)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,010,132 | 121,010,503 | 121,029,109 | 121,029,479 |
| essv5444090 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5593364 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5614761 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5633339 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5705595 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5719679 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5738082 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5753428 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5760960 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5799398 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5846582 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5860382 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv5874883 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6036118 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6082837 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6149609 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6206680 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6224826 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6318298 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6339236 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6412596 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6413213 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 | ||
| essv6475885 | Submitted genomic | NC_000010.10:g.(12 2769645_122770016) _(122788622_122788 992)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,769,645 | 122,770,016 | 122,788,622 | 122,788,992 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5719679 | 7 | SAMN00000414 | SNP array | Probe signal intensity | Pass |
| essv5874883 | 7 | SAMN00000474 | SNP array | Probe signal intensity | Pass |
| essv6206680 | 7 | SAMN00000477 | SNP array | Probe signal intensity | Pass |
| essv5760960 | 7 | SAMN00000482 | SNP array | Probe signal intensity | Pass |
| essv6082837 | 7 | SAMN00000483 | SNP array | Probe signal intensity | Pass |
| essv5444090 | 7 | SAMN00000565 | SNP array | Probe signal intensity | Pass |
| essv5738082 | 7 | SAMN00000566 | SNP array | Probe signal intensity | Pass |
| essv5799398 | 7 | SAMN00000573 | SNP array | Probe signal intensity | Pass |
| essv6339236 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv6318298 | 7 | SAMN00000575 | SNP array | Probe signal intensity | Pass |
| essv5614761 | 7 | SAMN00001586 | SNP array | Probe signal intensity | Pass |
| essv5705595 | 7 | SAMN00001587 | SNP array | Probe signal intensity | Pass |
| essv6224826 | 7 | SAMN00001623 | SNP array | Probe signal intensity | Pass |
| essv5753428 | 7 | SAMN00001627 | SNP array | Probe signal intensity | Pass |
| essv5846582 | 7 | SAMN00001630 | SNP array | Probe signal intensity | Pass |
| essv5860382 | 7 | SAMN00001632 | SNP array | Probe signal intensity | Pass |
| essv5593364 | 7 | SAMN00001665 | SNP array | Probe signal intensity | Pass |
| essv5633339 | 7 | SAMN00001666 | SNP array | Probe signal intensity | Pass |
| essv6149609 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv6412596 | 7 | SAMN00001672 | SNP array | Probe signal intensity | Pass |
| essv6036118 | 7 | SAMN00001683 | SNP array | Probe signal intensity | Pass |
| essv6475885 | 7 | SAMN00001684 | SNP array | Probe signal intensity | Pass |
| essv6413213 | 7 | SAMN00001697 | SNP array | Probe signal intensity | Pass |