esv3615005
- 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:27,511
- 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: 219 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3615005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 129,744,131 | 129,771,641 |
| esv3615005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 129,383,971 | 129,411,481 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv12969185 | duplication | SAMN00630270 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,686 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv12969185 | Remapped | Perfect | NC_000007.14:g.129 744131_129771641du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,744,131 | 129,771,641 |
| essv12969185 | Submitted genomic | NC_000007.13:g.129 383971_129411481du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 129,383,971 | 129,411,481 |