esv3857970
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:27
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,952
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 196 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3857970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| esv3857970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21646290 | copy number loss | HG00127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,694 |
| essv21646291 | copy number loss | HG00129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,479 |
| essv21646292 | copy number loss | HG00179 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,095 |
| essv21646293 | copy number loss | HG00269 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,112 |
| essv21646294 | copy number variation | HG00332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,201 |
| essv21646295 | copy number loss | HG00350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,083 |
| essv21646296 | copy number loss | HG00640 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,634 |
| essv21646297 | copy number loss | HG01082 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,731 |
| essv21646298 | copy number loss | HG01162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,805 |
| essv21646299 | copy number loss | HG01311 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,495 |
| essv21646300 | copy number loss | HG01515 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,148 |
| essv21646301 | copy number loss | HG01618 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,073 |
| essv21646302 | copy number loss | HG01704 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,432 |
| essv21646303 | copy number loss | HG02104 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,150 |
| essv21646304 | copy number loss | HG02654 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,618 |
| essv21646305 | copy number loss | HG02691 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,484 |
| essv21646306 | copy number loss | HG03229 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,487 |
| essv21646307 | copy number loss | HG03625 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,800 |
| essv21646308 | copy number loss | HG03691 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,512 |
| essv21646309 | copy number loss | NA12383 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,473 |
| essv21646310 | copy number loss | NA12874 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,371 |
| essv21646311 | copy number loss | NA20342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,280 |
| essv21646312 | copy number loss | NA20504 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,407 |
| essv21646313 | copy number loss | NA20505 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,402 |
| essv21646314 | copy number gain | HG03019 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 2,740 |
| essv21646315 | copy number gain | NA18912 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,809 |
| essv21646316 | copy number gain | NA19789 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,596 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21646290 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646291 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646292 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646293 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646294 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 | |
| essv21646295 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646296 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646297 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646298 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646299 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646300 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646301 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646302 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646303 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646304 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646305 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646306 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646307 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646308 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646309 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646310 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646311 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646312 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646313 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646314 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646315 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646316 | Remapped | Perfect | NC_000009.12:g.827 57437_82773388dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 82,757,437 | 82,773,388 |
| essv21646290 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646291 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646292 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646293 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646294 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | |||
| essv21646295 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646296 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646297 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646298 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646299 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646300 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646301 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646302 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646303 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646304 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646305 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646306 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646307 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646308 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646309 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646310 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646311 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646312 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646313 | Submitted genomic | NC_000009.11:g.853 72352_85388303del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646314 | Submitted genomic | NC_000009.11:g.853 72352_85388303dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646315 | Submitted genomic | NC_000009.11:g.853 72352_85388303dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 | ||
| essv21646316 | Submitted genomic | NC_000009.11:g.853 72352_85388303dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 85,372,352 | 85,388,303 |