esv3584945
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,196
- Publication(s):Mokhtar et al. 2014
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: 364 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 63,132,955 | 63,152,150 |
| esv3584945 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 60,800,188 | 60,819,383 |
| esv3584945 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 58,951,168 | 58,970,363 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838344 | copy number gain | 2RB | SNP array | Probe signal intensity | 55 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838344 | Remapped | Perfect | NC_000018.10:g.(?_ 63132955)_(6315215 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 63,132,955 | 63,152,150 |
| essv9838344 | Remapped | Perfect | NC_000018.9:g.(?_6 0800188)_(60819383 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 60,800,188 | 60,819,383 |
| essv9838344 | Submitted genomic | NC_000018.8:g.(?_5 8951168)_(58970363 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 58,951,168 | 58,970,363 |