esv29952
- 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:1,788,964
- 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: 8709 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 8857 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 3511 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 4752 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29952 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,040,151 | 33,829,114 |
| esv29952 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,051,472 | 33,631,581 |
| esv29952 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 103,116 | 1,641,917 |
| esv29952 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 31,958,973 | 33,539,082 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84191 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84191 | Remapped | Pass | NC_000016.10:g.(?_ 32040151)_(3382911 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,040,151 | 33,829,114 |
| essv84191 | Remapped | Good | NW_003871055.3:g.( ?_103116)_(1641917 _?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 103,116 | 1,641,917 |
| essv84191 | Remapped | Perfect | NC_000016.9:g.(?_3 2051472)_(33631581 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,051,472 | 33,631,581 |
| essv84191 | Submitted genomic | NC_000016.8:g.(?_3 1958973)_(33539082 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 31,958,973 | 33,539,082 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84191 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84191 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84191 | 3 | WATSON | Sequencing | Read depth | Pass |