esv3985667
- 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:112,752
- 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: 378 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3985667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,377,814 | 18,490,565 |
| esv3985667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,154,291 | 19,267,042 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25941259 | deletion | DGMQ-32325 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,499 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25941259 | Remapped | Perfect | NC_000014.9:g.(183 77814_?)_(?_184905 65)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,377,814 | 18,490,565 |
| essv25941259 | Submitted genomic | NC_000014.8:g.(191 54291_?)_(?_192670 42)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,154,291 | 19,267,042 |