esv3984284
- 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:211,950
- 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: 745 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 745 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3984284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 187,970,220 | 188,182,169 |
| esv3984284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 187,939,351 | 188,151,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26018333 | deletion | DGMQ-32064 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,555 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26018333 | Remapped | Perfect | NC_000001.11:g.(18 7970220_?)_(?_1881 82169)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 187,970,220 | 188,182,169 |
| essv26018333 | Submitted genomic | NC_000001.10:g.(18 7939351_?)_(?_1881 51300)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 187,939,351 | 188,151,300 |