esv2754505
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:758,801
- Publication(s):Pinto et al. 2007
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: 2507 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2507 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 29,390,937 | 30,149,737 |
| esv2754505 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 26,970,902 | 27,729,702 |
| esv2754505 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 25,224,900 | 25,983,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6984301 | copy number gain | BEC_687 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6984301 | Remapped | Perfect | NC_000018.10:g.(?_ 29390937)_(3014973 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 29,390,937 | 30,149,737 |
| essv6984301 | Remapped | Perfect | NC_000018.9:g.(?_2 6970902)_(27729702 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 26,970,902 | 27,729,702 |
| essv6984301 | Submitted genomic | NC_000018.8:g.(?_2 5224900)_(25983700 _?)dup | NCBI35 (hg17) | NC_000018.8 | Chr18 | 25,224,900 | 25,983,700 |