esv33325
- 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:40,079
- 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: 408 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 61,628,161 | 61,668,239 |
| esv33325 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 59,295,394 | 59,335,472 |
| esv33325 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 57,446,374 | 57,486,452 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv98201 | copy number loss | 21772 | Oligo aCGH | Probe signal intensity | 211 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv98201 | Remapped | Perfect | NC_000018.10:g.(61 626936_61628161)_( 61668239_61732885) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 61,626,936 | 61,628,161 | 61,668,239 | 61,732,885 |
| essv98201 | Remapped | Perfect | NC_000018.9:g.(592 94169_59295394)_(5 9335472_59400118)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 59,294,169 | 59,295,394 | 59,335,472 | 59,400,118 |
| essv98201 | Submitted genomic | NC_000018.8:g.(574 45149_57446374)_(5 7486452_57551098)d el | NCBI35 (hg17) | NC_000018.8 | Chr18 | 57,445,149 | 57,446,374 | 57,486,452 | 57,551,098 |