esv3870162
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 187 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3870162 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 43,472,475 (-0, +3) | 43,472,475 (-3, +0) |
| esv3870162 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 44,046,611 (-0, +3) | 44,046,611 (-3, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv23111529 | insertion | HG00436 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,456 |
| essv23111530 | insertion | HG00443 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,477 |
| essv23111531 | insertion | HG01807 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,385 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv23111529 | Remapped | Perfect | NC_000013.11:g.(43 472475_43472478)_( 43472472_43472475) ins47 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 43,472,475 (-0, +3) | 43,472,475 (-3, +0) |
| essv23111530 | Remapped | Perfect | NC_000013.11:g.(43 472475_43472478)_( 43472472_43472475) ins47 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 43,472,475 (-0, +3) | 43,472,475 (-3, +0) |
| essv23111531 | Remapped | Perfect | NC_000013.11:g.(43 472475_43472478)_( 43472472_43472475) ins47 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 43,472,475 (-0, +3) | 43,472,475 (-3, +0) |
| essv23111529 | Submitted genomic | NC_000013.10:g.(44 046611_44046614)_( 44046608_44046611) ins47 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,046,611 (-0, +3) | 44,046,611 (-3, +0) | ||
| essv23111530 | Submitted genomic | NC_000013.10:g.(44 046611_44046614)_( 44046608_44046611) ins47 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,046,611 (-0, +3) | 44,046,611 (-3, +0) | ||
| essv23111531 | Submitted genomic | NC_000013.10:g.(44 046611_44046614)_( 44046608_44046611) ins47 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,046,611 (-0, +3) | 44,046,611 (-3, +0) |