esv3693373
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:108,620
- Publication(s):Palta 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: 651 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 651 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv3693373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 16,558,900 | 16,667,519 |
esv3693373 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 16,416,409 | 16,525,028 |
esv3693373 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 16,460,780 | 16,569,399 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
essv16508447 | copy number loss | C010130 | SNP array | Probe signal intensity | Healthy individuals | 1 | essv16508448, essv16508449 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv16508447 | Remapped | Perfect | NC_000008.11:g.(?_ 16558900)_(1666751 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,558,900 | 16,667,519 |
essv16508447 | Remapped | Perfect | NC_000008.10:g.(?_ 16416409)_(1652502 8_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 16,416,409 | 16,525,028 |
essv16508447 | Submitted genomic | NC_000008.9:g.(?_1 6460780)_(16569399 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,460,780 | 16,569,399 |