esv3857192
- 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:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,645
- 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: 795 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 801 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3857192 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| esv3857192 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21524635 | deletion | HG00106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,290 |
| essv21524636 | deletion | HG00177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,002 |
| essv21524637 | deletion | HG00243 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,579 |
| essv21524638 | deletion | HG00326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,173 |
| essv21524639 | deletion | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
| essv21524640 | deletion | HG03228 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,711 |
| essv21524641 | deletion | HG04017 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,502 |
| essv21524642 | deletion | NA07357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,777 |
| essv21524643 | deletion | NA18641 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,241 |
| essv21524644 | deletion | NA19921 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,712 |
| essv21524645 | deletion | NA20759 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,723 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21524635 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524636 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524637 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524638 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524639 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524640 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524641 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524642 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524643 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524644 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524645 | Remapped | Perfect | NC_000009.12:g.(28 668761_28668812)_( 28729405_28729456) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| essv21524635 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524636 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524637 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524638 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524639 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524640 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524641 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524642 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524643 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524644 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) | ||
| essv21524645 | Submitted genomic | NC_000009.11:g.(28 668759_28668810)_( 28729403_28729454) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,668,784 (-25, +26) | 28,729,428 (-25, +26) |