esv3620182
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- 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 Project Consortium et al. 2015
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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3620182 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,668,786 (-25, +26) | 28,729,430 (-25, +26) |
| esv3620182 | 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 |
|---|---|---|---|---|---|---|
| essv13439253 | deletion | SAMN00004632 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,666 |
| essv13439254 | deletion | SAMN00016969 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,443 |
| essv13439255 | deletion | SAMN00006352 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,799 |
| essv13439256 | deletion | SAMN00009106 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,582 |
| essv13439257 | deletion | SAMN00249839 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,717 |
| essv13439258 | deletion | SAMN01761385 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,853 |
| essv13439259 | deletion | SAMN01091040 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,633 |
| essv13439260 | deletion | SAMN00797419 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,948 |
| essv13439261 | deletion | SAMN00000463 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,588 |
| essv13439262 | deletion | SAMN00007822 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,993 |
| essv13439263 | deletion | SAMN00001278 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,899 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13439253 | 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) |
| essv13439254 | 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) |
| essv13439255 | 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) |
| essv13439256 | 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) |
| essv13439257 | 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) |
| essv13439258 | 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) |
| essv13439259 | 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) |
| essv13439260 | 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) |
| essv13439261 | 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) |
| essv13439262 | 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) |
| essv13439263 | 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) |
| essv13439253 | 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) | ||
| essv13439254 | 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) | ||
| essv13439255 | 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) | ||
| essv13439256 | 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) | ||
| essv13439257 | 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) | ||
| essv13439258 | 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) | ||
| essv13439259 | 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) | ||
| essv13439260 | 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) | ||
| essv13439261 | 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) | ||
| essv13439262 | 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) | ||
| essv13439263 | 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) |