esv3609228
- 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:215,965
- 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: 510 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 510 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3609228 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 61,994,687 | 62,210,651 |
| esv3609228 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 62,704,592 | 62,920,556 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12387833 | duplication | SAMN00001534 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,828 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12387833 | Remapped | Perfect | NC_000006.12:g.619 94687_62210651dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 61,994,687 | 62,210,651 |
| essv12387833 | Submitted genomic | NC_000006.11:g.627 04592_62920556dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 62,704,592 | 62,920,556 |