esv3584566
- 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:96,691
- 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: 1085 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 953 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 717 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584566 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 393,157 | 489,847 |
| esv3584566 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 192,558 | 289,248 |
| esv3584566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,145,354 | 2,242,044 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838776 | copy number gain | OA053 | SNP array | Probe signal intensity | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838776 | Remapped | Perfect | NT_187576.1:g.(?_3 93157)_(489847_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 393,157 | 489,847 |
| essv9838776 | Remapped | Perfect | NW_003571042.1:g.( ?_192558)_(289248_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 192,558 | 289,248 |
| essv9838776 | Submitted genomic | NC_000008.9:g.(?_2 145354)_(2242044_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,145,354 | 2,242,044 |