esv3640332
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52,857
- 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: 187 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3640332 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 29,957,567 (-1000, +500) | 30,010,423 (-500, +1000) |
| esv3640332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 28,284,585 (-1000, +500) | 28,337,441 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15657258 | deletion | SAMN01036713 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,109 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15657258 | Remapped | Perfect | NC_000017.11:g.(29 956567_29958067)_( 30009923_30011423) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 29,957,567 (-1000, +500) | 30,010,423 (-500, +1000) |
| essv15657258 | Submitted genomic | NC_000017.10:g.(28 283585_28285085)_( 28336941_28338441) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 28,284,585 (-1000, +500) | 28,337,441 (-500, +1000) |