esv3628243
- 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:7,730
- 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: 359 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3628243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 476,844 (-53, +53) | 484,573 (-53, +53) |
| esv3628243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 586,010 (-53, +53) | 593,739 (-53, +53) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv14329784 | deletion | SAMN01761310 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,227 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv14329784 | Remapped | Perfect | NC_000012.12:g.(47 6791_476897)_(4845 20_484626)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 476,844 (-53, +53) | 484,573 (-53, +53) |
| essv14329784 | Submitted genomic | NC_000012.11:g.(58 5957_586063)_(5936 86_593792)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 586,010 (-53, +53) | 593,739 (-53, +53) |