esv3983585
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:134,754
- Publication(s):Fakhro 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: 860 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1384 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3983585 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| esv3983585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26028859 | deletion | DGMQ-31641 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,638 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv26028859 | Remapped | Good | NC_000009.12:g.(?_ 61518809)_(?_61653 562)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,518,809 | 61,653,562 |
| essv26028859 | Submitted genomic | NC_000009.11:g.(44 726401_?)_(?_44861 400)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 44,726,401 | - | 44,861,400 |