esv3856983
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,662
- 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: 482 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 488 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3856983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 22,784,122 (-500, +0) | 22,858,783 (-0, +500) |
| esv3856983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 22,784,121 (-500, +0) | 22,858,782 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21511547 | deletion | HG01840 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,582 |
| essv21511548 | deletion | HG02113 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21511547 | Remapped | Perfect | NC_000009.12:g.(22 783622_22784122)_( 22858783_22859283) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 22,784,122 (-500, +0) | 22,858,783 (-0, +500) |
| essv21511548 | Remapped | Perfect | NC_000009.12:g.(22 783622_22784122)_( 22858783_22859283) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 22,784,122 (-500, +0) | 22,858,783 (-0, +500) |
| essv21511547 | Submitted genomic | NC_000009.11:g.(22 783621_22784121)_( 22858782_22859282) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 22,784,121 (-500, +0) | 22,858,782 (-0, +500) | ||
| essv21511548 | Submitted genomic | NC_000009.11:g.(22 783621_22784121)_( 22858782_22859282) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 22,784,121 (-500, +0) | 22,858,782 (-0, +500) |