esv3584952
- 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:10,572
- 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: 1135 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1135 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 592 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,075,518 | 69,086,089 |
| esv3584952 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 66,742,755 | 66,753,326 |
| esv3584952 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 64,893,735 | 64,904,306 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838215 | copy number gain | 8S | SNP array | Probe signal intensity | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838215 | Remapped | Perfect | NC_000018.10:g.(?_ 69075518)_(6908608 9_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,075,518 | 69,086,089 |
| essv9838215 | Remapped | Perfect | NC_000018.9:g.(?_6 6742755)_(66753326 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 66,742,755 | 66,753,326 |
| essv9838215 | Submitted genomic | NC_000018.8:g.(?_6 4893735)_(64904306 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 64,893,735 | 64,904,306 |