esv3601651
- 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:12,819
- 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: 184 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3601651 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 104,675,866 (-64, +65) | 104,688,684 (-64, +65) |
| esv3601651 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 105,597,023 (-64, +65) | 105,609,841 (-64, +65) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11552244 | deletion | SAMN01090859 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,807 |
| essv11552245 | deletion | SAMN01090921 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,868 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11552244 | Remapped | Perfect | NC_000004.12:g.(10 4675802_104675931) _(104688620_104688 749)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 104,675,866 (-64, +65) | 104,688,684 (-64, +65) |
| essv11552245 | Remapped | Perfect | NC_000004.12:g.(10 4675802_104675931) _(104688620_104688 749)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 104,675,866 (-64, +65) | 104,688,684 (-64, +65) |
| essv11552244 | Submitted genomic | NC_000004.11:g.(10 5596959_105597088) _(105609777_105609 906)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 105,597,023 (-64, +65) | 105,609,841 (-64, +65) | ||
| essv11552245 | Submitted genomic | NC_000004.11:g.(10 5596959_105597088) _(105609777_105609 906)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 105,597,023 (-64, +65) | 105,609,841 (-64, +65) |