esv3857193
- 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:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,956
- 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: 698 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3857193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| esv3857193 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21524646 | deletion | HG00106 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,290 |
| essv21524647 | deletion | HG00177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,002 |
| essv21524648 | deletion | HG00243 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,579 |
| essv21524649 | deletion | HG00326 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,173 |
| essv21524650 | deletion | HG00590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,163 |
| essv21524651 | deletion | HG00698 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,549 |
| essv21524652 | deletion | HG01599 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,354 |
| essv21524653 | deletion | HG01865 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,541 |
| essv21524654 | deletion | HG02165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,305 |
| essv21524655 | deletion | HG02188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,242 |
| essv21524656 | deletion | HG03228 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,711 |
| essv21524657 | deletion | HG04017 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,502 |
| essv21524658 | deletion | NA07357 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,777 |
| essv21524659 | deletion | NA18641 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,241 |
| essv21524660 | deletion | NA18740 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,501 |
| essv21524661 | deletion | NA19921 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,712 |
| essv21524662 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv21524646 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524647 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524648 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524649 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524650 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524651 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524652 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524653 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524654 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524655 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524656 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524657 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524658 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524659 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524660 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524661 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524662 | Remapped | Perfect | NC_000009.12:g.(28 675867_28677367)_( 28710322_28711822) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,676,867 (-1000, +500) | 28,710,822 (-500, +1000) |
| essv21524646 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524647 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524648 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524649 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524650 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524651 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524652 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524653 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524654 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524655 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524656 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524657 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524658 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524659 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524660 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524661 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) | ||
| essv21524662 | Submitted genomic | NC_000009.11:g.(28 675865_28677365)_( 28710320_28711820) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,676,865 (-1000, +500) | 28,710,820 (-500, +1000) |