esv3990316
- Organism: Homo sapiens
- Study:estd226 (Zlotina et al. 2016)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:463,136
- Publication(s):Zlotina et al. 2016
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: 2789 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2789 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1122 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3990316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 14,375 | 142,096 | 447,282 | 477,510 |
| esv3990316 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 14,375 | 142,096 | 447,282 | 477,510 |
| esv3990316 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 4,375 | 132,096 | 437,282 | 467,510 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26046343 | copy number loss | 1 | Oligo aCGH | Curated | Heterozygous | essv26046345, essv26046342, essv26046344 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv26046343 | Remapped | Perfect | NC_000018.10:g.(14 375_142096)_(44728 2_477510)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 14,375 | 142,096 | 447,282 | 477,510 |
| essv26046343 | Remapped | Perfect | NC_000018.9:g.(143 75_142096)_(447282 _477510)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 14,375 | 142,096 | 447,282 | 477,510 |
| essv26046343 | Submitted genomic | NC_000018.8:g.(437 5_132096)_(437282_ 467510)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 4,375 | 132,096 | 437,282 | 467,510 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv26046343 | 2 | 1 | FISH | Curated | Pass |