esv3594296
- 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:27,711
- 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: 153 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3594296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 216,812,359 (-500, +0) | 216,840,069 (-0, +500) |
| esv3594296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 217,677,082 (-500, +0) | 217,704,792 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10846413 | deletion | SAMN00249845 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,593 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10846413 | Remapped | Perfect | NC_000002.12:g.(21 6811859_216812359) _(216840069_216840 569)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 216,812,359 (-500, +0) | 216,840,069 (-0, +500) |
| essv10846413 | Submitted genomic | NC_000002.11:g.(21 7676582_217677082) _(217704792_217705 292)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 217,677,082 (-500, +0) | 217,704,792 (-0, +500) |