esv3635163
- 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:273,343
- 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: 904 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 904 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3635163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 84,552,351 | 84,825,693 |
| esv3635163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 85,018,695 | 85,292,037 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15086744 | duplication | SAMN00797021 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,011 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15086744 | Remapped | Perfect | NC_000014.9:g.8455 2351_84825693dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 84,552,351 | 84,825,693 |
| essv15086744 | Submitted genomic | NC_000014.8:g.8501 8695_85292037dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 85,018,695 | 85,292,037 |