esv29943
- Organism: Homo sapiens
- Study:estd21 (Wheeler et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:376,182
- Publication(s):Wheeler et al. 2008
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: 3990 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 4103 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1088 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29943 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,097,311 | 22,473,492 |
| esv29943 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 22,565,588 | 22,942,482 |
| esv29943 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 21,635,428 | 22,012,322 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84182 | copy number loss | WATSON | Oligo aCGH | Probe signal intensity | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84182 | Remapped | Good | NC_000014.9:g.(?_2 2097311)_(22473492 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,097,311 | 22,473,492 |
| essv84182 | Remapped | Perfect | NC_000014.8:g.(?_2 2565588)_(22942482 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 22,565,588 | 22,942,482 |
| essv84182 | Submitted genomic | NC_000014.7:g.(?_2 1635428)_(22012322 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 21,635,428 | 22,012,322 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84182 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84182 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84182 | 3 | WATSON | Sequencing | Read depth | Pass |