esv2659645
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:18
- Validation:Yes
- Clinical Assertions: No
- Region Size:13,948
- 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: 1002 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1004 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2659645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| esv2659645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5442118 | deletion | SAMN00001132 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,614 |
| essv5481417 | deletion | SAMN00001156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,716 |
| essv5597705 | deletion | SAMN00001137 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,647 |
| essv5598784 | deletion | SAMN00001131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
| essv5789187 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv5883337 | deletion | SAMN00001175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,327 |
| essv5938312 | deletion | SAMN00001142 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,523 |
| essv5970306 | deletion | SAMN00001101 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,545 |
| essv6030926 | deletion | SAMN00001177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,531 |
| essv6091603 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
| essv6158536 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6229504 | deletion | SAMN00001130 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,544 |
| essv6243479 | deletion | SAMN00001106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 953 |
| essv6313995 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv6436374 | deletion | SAMN00001108 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 901 |
| essv6485365 | deletion | SAMN00001193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,179 |
| essv6510845 | deletion | SAMN00001115 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 840 |
| essv6579089 | deletion | SAMN00001139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,535 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5442118 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5481417 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5597705 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5598784 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5789187 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5883337 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5938312 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5970306 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6030926 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6091603 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6158536 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6229504 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6243479 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6313995 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6436374 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6485365 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6510845 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv6579089 | Remapped | Perfect | NC_000009.12:g.(51 4645_515016)_(5282 22_528592)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
| essv5442118 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5481417 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5597705 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5598784 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5789187 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5883337 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5938312 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv5970306 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6030926 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6091603 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6158536 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6229504 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6243479 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6313995 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6436374 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6485365 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6510845 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 | ||
| essv6579089 | Submitted genomic | NC_000009.11:g.(51 4645_515016)_(5282 22_528592)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 514,645 | 515,016 | 528,222 | 528,592 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5970306 | 9 | SAMN00001101 | Oligo aCGH | Probe signal intensity | Pass |
| essv6243479 | 9 | SAMN00001106 | Oligo aCGH | Probe signal intensity | Pass |
| essv6436374 | 9 | SAMN00001108 | Oligo aCGH | Probe signal intensity | Pass |
| essv6510845 | 9 | SAMN00001115 | Oligo aCGH | Probe signal intensity | Pass |
| essv5789187 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Pass |
| essv6229504 | 9 | SAMN00001130 | Oligo aCGH | Probe signal intensity | Pass |
| essv5598784 | 9 | SAMN00001131 | Oligo aCGH | Probe signal intensity | Pass |
| essv5442118 | 9 | SAMN00001132 | Oligo aCGH | Probe signal intensity | Pass |
| essv5597705 | 9 | SAMN00001137 | Oligo aCGH | Probe signal intensity | Pass |
| essv6313995 | 9 | SAMN00001138 | Oligo aCGH | Probe signal intensity | Pass |
| essv6579089 | 9 | SAMN00001139 | Oligo aCGH | Probe signal intensity | Pass |
| essv5938312 | 9 | SAMN00001142 | Oligo aCGH | Probe signal intensity | Pass |
| essv5481417 | 9 | SAMN00001156 | Oligo aCGH | Probe signal intensity | Pass |
| essv6091603 | 9 | SAMN00001166 | Oligo aCGH | Probe signal intensity | Pass |
| essv5883337 | 9 | SAMN00001175 | Oligo aCGH | Probe signal intensity | Pass |
| essv6030926 | 9 | SAMN00001177 | Oligo aCGH | Probe signal intensity | Pass |
| essv6158536 | 9 | SAMN00001182 | Oligo aCGH | Probe signal intensity | Pass |
| essv6485365 | 9 | SAMN00001193 | Oligo aCGH | Probe signal intensity | Pass |
| essv5970306 | 7 | SAMN00001101 | SNP array | Probe signal intensity | Pass |
| essv6243479 | 7 | SAMN00001106 | SNP array | Probe signal intensity | Pass |
| essv6436374 | 7 | SAMN00001108 | SNP array | Probe signal intensity | Pass |
| essv6510845 | 7 | SAMN00001115 | SNP array | Probe signal intensity | Pass |
| essv5789187 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv6229504 | 7 | SAMN00001130 | SNP array | Probe signal intensity | Pass |
| essv5598784 | 7 | SAMN00001131 | SNP array | Probe signal intensity | Pass |
| essv5442118 | 7 | SAMN00001132 | SNP array | Probe signal intensity | Pass |
| essv5597705 | 7 | SAMN00001137 | SNP array | Probe signal intensity | Pass |
| essv6313995 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
| essv6579089 | 7 | SAMN00001139 | SNP array | Probe signal intensity | Pass |
| essv5938312 | 7 | SAMN00001142 | SNP array | Probe signal intensity | Pass |
| essv5481417 | 7 | SAMN00001156 | SNP array | Probe signal intensity | Pass |
| essv6091603 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
| essv5883337 | 7 | SAMN00001175 | SNP array | Probe signal intensity | Pass |
| essv6030926 | 7 | SAMN00001177 | SNP array | Probe signal intensity | Pass |
| essv6158536 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
| essv6485365 | 7 | SAMN00001193 | SNP array | Probe signal intensity | Pass |