esv32869
- 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:51,323
- 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: 693 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 706 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,524,768 | 97,576,090 |
| esv32869 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 98,141,231 | 98,192,553 |
| esv32869 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 97,599,749 | 97,651,071 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv101490 | copy number loss | 21603 | Oligo aCGH | Probe signal intensity | 188 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv101490 | Remapped | Pass | NC_000002.12:g.(?_ 97489619)_(9757609 0_97587226)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | - | 97,489,619 | 97,576,090 | 97,587,226 |
| essv101490 | Remapped | Good | NC_000002.11:g.(98 025324_98025324)_( 98203689_98203689) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 98,025,324 | 98,025,324 | 98,203,689 | 98,203,689 |
| essv101490 | Submitted genomic | NC_000002.9:g.(974 83738_97599749)_(9 7651071_97662207)d el | NCBI35 (hg17) | NC_000002.9 | Chr2 | 97,483,738 | 97,599,749 | 97,651,071 | 97,662,207 |