esv3990317
- 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:Not tested
- Clinical Assertions: No
- Region Size:2,100,117
- 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: 7573 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 7573 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2339 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3990317 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 447,282 | 447,282 | 2,547,398 | 2,547,398 |
| esv3990317 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 447,282 | 477,510 | 2,490,365 | 2,547,397 |
| esv3990317 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 437,282 | 467,510 | 2,480,365 | 2,537,397 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26046344 | copy number gain | 1 | Oligo aCGH | Curated | Heterozygous | essv26046345, essv26046343, essv26046342 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv26046344 | Remapped | Perfect | NC_000018.10:g.(44 7282_447282)_(2547 398_2547398)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 447,282 | 447,282 | 2,547,398 | 2,547,398 |
| essv26046344 | Remapped | Perfect | NC_000018.9:g.(447 282_477510)_(24903 65_2547397)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 447,282 | 477,510 | 2,490,365 | 2,547,397 |
| essv26046344 | Submitted genomic | NC_000018.8:g.(437 282_467510)_(24803 65_2537397)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 437,282 | 467,510 | 2,480,365 | 2,537,397 |