esv29954
- 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:111,151
- 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: 1430 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1430 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 783 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29954 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 69,288,147 | 69,399,297 |
| esv29954 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 70,153,865 | 70,265,015 |
| esv29954 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 70,188,454 | 70,299,604 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84193 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84193 | Remapped | Perfect | NC_000004.12:g.(?_ 69288147)_(6939929 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 69,288,147 | 69,399,297 |
| essv84193 | Remapped | Perfect | NC_000004.11:g.(?_ 70153865)_(7026501 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 70,153,865 | 70,265,015 |
| essv84193 | Submitted genomic | NC_000004.10:g.(?_ 70188454)_(7029960 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 70,188,454 | 70,299,604 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84193 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84193 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84193 | 3 | WATSON | Sequencing | Read depth | Pass |