esv33632
- 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:43,789
- 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: 280 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33632 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 114,960,753 | 115,004,541 |
| esv33632 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 115,281,917 | 115,325,705 |
| esv33632 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 115,388,610 | 115,432,398 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv99531 | copy number loss | 22335 | Oligo aCGH | Probe signal intensity | 206 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv99531 | Remapped | Perfect | NC_000006.12:g.(11 4938823_114960753) _(115004541_115053 756)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 114,938,823 | 114,960,753 | 115,004,541 | 115,053,756 |
| essv99531 | Remapped | Perfect | NC_000006.11:g.(11 5259987_115281917) _(115325705_115374 920)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 115,259,987 | 115,281,917 | 115,325,705 | 115,374,920 |
| essv99531 | Submitted genomic | NC_000006.9:g.(115 366680_115388610)_ (115432398_1154816 13)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 115,366,680 | 115,388,610 | 115,432,398 | 115,481,613 |