esv33354
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,023
- Publication(s):de Smith et al. 2007
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: 356 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33354 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 76,057,288 | 76,127,310 |
| esv33354 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 78,672,204 | 78,742,226 |
| esv33354 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000009.9 | Chr9 | 75,901,758 | 75,971,780 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv97511 | copy number loss | 21616 | Oligo aCGH | Probe signal intensity | 158 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv97511 | Remapped | Perfect | NC_000009.12:g.(75 918617_76057288)_( 76127310_76169695) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,918,617 | 76,057,288 | 76,127,310 | 76,169,695 |
| essv97511 | Remapped | Perfect | NC_000009.11:g.(78 533533_78672204)_( 78742226_78784611) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 78,533,533 | 78,672,204 | 78,742,226 | 78,784,611 |
| essv97511 | Submitted genomic | NC_000009.9:g.(757 63087_75901758)_(7 5971780_76014165)d el | NCBI35 (hg17) | NC_000009.9 | Chr9 | 75,763,087 | 75,901,758 | 75,971,780 | 76,014,165 |