esv3567801
- Organism: Homo sapiens
- Study:estd211 (Campbell et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:455,555
- Publication(s):Campbell et al. 2014
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: 2205 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2205 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3567801 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,646,843 | 51,102,397 |
| esv3567801 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,873,981 | 51,329,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| essv9766548 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9766548 | Remapped | Perfect | NC_000002.12:g.506 46843_51102397del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,646,843 | 51,102,397 |
| essv9766548 | Submitted genomic | NC_000002.11:g.508 73981_51329535del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,873,981 | 51,329,535 |