esv3584931
- 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:25,851
- 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: 747 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 747 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 380 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,762,682 | 55,788,532 |
| esv3584931 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 55,796,594 | 55,822,444 |
| esv3584931 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 54,354,095 | 54,379,945 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838455 | copy number gain | KSM008 | SNP array | Probe signal intensity | 54 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838455 | Remapped | Perfect | NC_000016.10:g.(?_ 55762682)_(5578853 2_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,762,682 | 55,788,532 |
| essv9838455 | Remapped | Perfect | NC_000016.9:g.(?_5 5796594)_(55822444 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 55,796,594 | 55,822,444 |
| essv9838455 | Submitted genomic | NC_000016.8:g.(?_5 4354095)_(54379945 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 54,354,095 | 54,379,945 |