esv2753160
- 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:269,950
- 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: 955 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 955 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753160 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 112,908,212 | 113,178,161 |
| esv2753160 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 113,920,441 | 114,190,390 |
| esv2753160 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 113,989,617 | 114,259,566 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6989830 | copy number loss | BEC_672 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6989830 | Remapped | Perfect | NC_000008.11:g.(?_ 112908212)_(113178 161_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 112,908,212 | 113,178,161 |
| essv6989830 | Remapped | Perfect | NC_000008.10:g.(?_ 113920441)_(114190 390_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 113,920,441 | 114,190,390 |
| essv6989830 | Submitted genomic | NC_000008.9:g.(?_1 13989617)_(1142595 66_?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 113,989,617 | 114,259,566 |