esv3975530
- 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:112,240
- 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: 605 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 605 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3975530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 131,443,699 | 131,555,938 |
| esv3975530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 132,455,946 | 132,568,185 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26001020 | duplication | DGMQ-31125 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,569 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26001020 | Remapped | Perfect | NC_000008.11:g.(13 1443699_?)_(?_1315 55938)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 131,443,699 | 131,555,938 |
| essv26001020 | Submitted genomic | NC_000008.10:g.(13 2455946_?)_(?_1325 68185)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 132,455,946 | 132,568,185 |