esv3989377
- 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:74,925
- 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: 489 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 489 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3989377 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,357,215 | 49,432,139 |
| esv3989377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 49,584,354 | 49,659,277 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25931925 | deletion | DGMQ-32220 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,685 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25931925 | Remapped | Good | NC_000002.12:g.(49 357215_?)_(?_49432 139)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,357,215 | 49,432,139 |
| essv25931925 | Submitted genomic | NC_000002.11:g.(49 584354_?)_(?_49659 277)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 49,584,354 | 49,659,277 |