esv3619644
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,554
- 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: 3102 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3106 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3619644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| esv3619644 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13403770 | deletion | SAMN00249920 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,784 |
| essv13403771 | deletion | SAMN00630220 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,027 |
| essv13403772 | deletion | SAMN00263046 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,862 |
| essv13403773 | deletion | SAMN01761289 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,241 |
| essv13403774 | deletion | SAMN01090882 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,051 |
| essv13403775 | deletion | SAMN01090900 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,077 |
| essv13403776 | deletion | SAMN01091022 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,764 |
| essv13403777 | deletion | SAMN01090950 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,764 |
| essv13403778 | deletion | SAMN01096803 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,810 |
| essv13403779 | deletion | SAMN00000435 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,808 |
| essv13403780 | deletion | SAMN00000485 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,624 |
| essv13403781 | deletion | SAMN00000563 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,273 |
| essv13403782 | deletion | SAMN00001339 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,222 |
| essv13403783 | deletion | SAMN00001173 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,262 |
| essv13403784 | deletion | SAMN00001175 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,829 |
| essv13403785 | deletion | SAMN00007711 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,733 |
| essv13403786 | deletion | SAMN00007806 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,302 |
| essv13403787 | deletion | SAMN00007940 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,492 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13403770 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403771 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403772 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403773 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403774 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403775 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403776 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403777 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403778 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403779 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403780 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403781 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403782 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403783 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403784 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403785 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403786 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403787 | Remapped | Perfect | NC_000009.12:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |
| essv13403770 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403771 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403772 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403773 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403774 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403775 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403776 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403777 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403778 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403779 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403780 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403781 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403782 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403783 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403784 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403785 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403786 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) | ||
| essv13403787 | Submitted genomic | NC_000009.11:g.(11 849041_11849111)_( 12028594_12028664) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,849,076 (-35, +35) | 12,028,629 (-35, +35) |