esv29949
- 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:54,103
- 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: 800 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 800 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 393 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 25,282,958 | 25,337,060 |
| esv29949 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 25,609,449 | 25,663,551 |
| esv29949 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 25,482,036 | 25,536,138 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84188 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84188 | Remapped | Perfect | NC_000001.11:g.(?_ 25282958)_(2533706 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,282,958 | 25,337,060 |
| essv84188 | Remapped | Perfect | NC_000001.10:g.(?_ 25609449)_(2566355 1_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,609,449 | 25,663,551 |
| essv84188 | Submitted genomic | NC_000001.9:g.(?_2 5482036)_(25536138 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 25,482,036 | 25,536,138 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84188 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84188 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84188 | 3 | WATSON | Sequencing | Read depth | Fail |