esv3610999
- 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:256,205
- 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: 892 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3610999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 140,317,585 | 140,573,789 |
esv3610999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 140,638,722 | 140,894,926 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv12568537 | deletion | SAMN00007774 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv12568537 | Remapped | Perfect | NC_000006.12:g.140 317585_140573789de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 140,317,585 | 140,573,789 |
essv12568537 | Submitted genomic | NC_000006.11:g.140 638722_140894926de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 140,638,722 | 140,894,926 |