esv3986122
- 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:80,100
- 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: 973 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 973 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
esv3986122 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 24,015,254 | 24,095,353 |
esv3986122 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 24,260,401 | 24,340,500 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25964208 | deletion | DGMQ-32977 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,525 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv25964208 | Remapped | Perfect | NC_000015.10:g.(24 015254_?)_(?_24095 353)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 24,015,254 | 24,095,353 |
essv25964208 | Submitted genomic | NC_000015.9:g.(242 60401_?)_(?_243405 00)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 24,260,401 | 24,340,500 |