esv3837015
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- 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 Consortium Phase 3 Integrated SV
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: 867 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 867 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3837015 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
| esv3837015 | 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 |
|---|---|---|---|---|---|---|
| essv19098462 | deletion | HG01859 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Homozygous | 3,356 |
| essv19098463 | deletion | NA20531 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,441 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv19098462 | Remapped | Perfect | NC_000004.12:g.126 506893_126780508de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
| essv19098463 | Remapped | Perfect | NC_000004.12:g.126 506893_126780508de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 126,506,893 | 126,780,508 |
| essv19098462 | Submitted genomic | NC_000004.11:g.127 428048_127701663de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,428,048 | 127,701,663 | ||
| essv19098463 | Submitted genomic | NC_000004.11:g.127 428048_127701663de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 127,428,048 | 127,701,663 |