esv3611478
- 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:214,892
- 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: 1423 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1423 SVs from 90 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3611478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,853,183 | 162,068,074 |
esv3611478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,274,215 | 162,489,106 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv12619504 | duplication | SAMN00009098 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,704 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv12619504 | Remapped | Perfect | NC_000006.12:g.161 853183_162068074du p | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,853,183 | 162,068,074 |
essv12619504 | Submitted genomic | NC_000006.11:g.162 274215_162489106du p | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,274,215 | 162,489,106 |