esv3990315
- 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:706,622
- 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: 1641 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1641 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3990315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 34,343,741 | 34,493,098 | 34,935,268 | 35,050,362 |
| esv3990315 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 31,923,705 | 32,073,062 | 32,515,232 | 32,630,326 |
| esv3990315 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 30,177,703 | 30,327,060 | 30,769,230 | 30,884,324 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26046342 | copy number loss | 1 | Oligo aCGH | Curated | Heterozygous | essv26046345, essv26046343, 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv26046342 | Remapped | Perfect | NC_000018.10:g.(34 343741_34493098)_( 34935268_35050362) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 34,343,741 | 34,493,098 | 34,935,268 | 35,050,362 |
| essv26046342 | Remapped | Perfect | NC_000018.9:g.(319 23705_32073062)_(3 2515232_32630326)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 31,923,705 | 32,073,062 | 32,515,232 | 32,630,326 |
| essv26046342 | Submitted genomic | NC_000018.8:g.(301 77703_30327060)_(3 0769230_30884324)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 30,177,703 | 30,327,060 | 30,769,230 | 30,884,324 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv26046342 | 3 | 1 | qPCR | Curated | Pass |