esv3978270
- 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:88,353
- 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: 1313 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1313 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3978270 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 32,051,648 | 32,140,000 |
| esv3978270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,343,851 | 32,432,201 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25904154 | duplication | DGMQ-32215 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,575 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25904154 | Remapped | Good | NC_000015.10:g.(32 051648_?)_(?_32140 000)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 32,051,648 | 32,140,000 |
| essv25904154 | Submitted genomic | NC_000015.9:g.(323 43851_?)_(?_324322 01)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,343,851 | 32,432,201 |