esv3567845
- 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:130,590
- 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: 718 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3567845 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 3,290,914 | 3,421,503 |
| esv3567845 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 3,290,914 | 3,421,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| essv9766592 | deletion | Sequencing | Manual observation | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9766592 | Remapped | Perfect | NC_000009.12:g.329 0914_3421503del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 3,290,914 | 3,421,503 |
| essv9766592 | Submitted genomic | NC_000009.11:g.329 0914_3421503del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 3,290,914 | 3,421,503 |