esv29945
- 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:42,779
- 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: 1106 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1106 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 520 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,534,947 | 73,577,725 |
| esv29945 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 74,001,651 | 74,044,429 |
| esv29945 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 73,071,404 | 73,114,182 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84184 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84184 | Remapped | Perfect | NC_000014.9:g.(?_7 3534947)_(73577725 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,534,947 | 73,577,725 |
| essv84184 | Remapped | Perfect | NC_000014.8:g.(?_7 4001651)_(74044429 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 74,001,651 | 74,044,429 |
| essv84184 | Submitted genomic | NC_000014.7:g.(?_7 3071404)_(73114182 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 73,071,404 | 73,114,182 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84184 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84184 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84184 | 3 | WATSON | Sequencing | Read depth | Pass |