esv3602126
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:273,616
- 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: 868 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 868 SVs from 72 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3602126 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
esv3602126 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 127,428,048 | 127,701,663 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11595797 | deletion | SAMN00249833 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,728 |
essv11595798 | deletion | SAMN00001250 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,825 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11595797 | Remapped | Perfect | NC_000004.12:g.126 506893_126780508de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
essv11595798 | Remapped | Perfect | NC_000004.12:g.126 506893_126780508de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
essv11595797 | Submitted genomic | NC_000004.11:g.127 428048_127701663de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,428,048 | 127,701,663 | ||
essv11595798 | Submitted genomic | NC_000004.11:g.127 428048_127701663de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,428,048 | 127,701,663 |