esv3602867
- 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:108,836
- 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: 442 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 442 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3602867 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 160,197,794 | 160,306,629 |
esv3602867 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 161,118,946 | 161,227,781 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11662852 | deletion | SAMN00249845 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,593 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11662852 | Remapped | Perfect | NC_000004.12:g.160 197794_160306629de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 160,197,794 | 160,306,629 |
essv11662852 | Submitted genomic | NC_000004.11:g.161 118946_161227781de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,118,946 | 161,227,781 |