esv3890759
- Organism: Homo sapiens
- Study:estd224 (Suktitipat 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:261,736
- Publication(s):Suktitipat 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: 995 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 995 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3890759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 155,982,520 | 155,982,520 | 156,244,255 | 156,244,255 |
| esv3890759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 155,409,530 | 155,409,530 | 155,671,265 | 155,671,265 |
| esv3890759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 155,342,108 | 155,342,108 | 155,603,843 | 155,603,843 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25780132 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25780132 | Remapped | Perfect | NC_000005.10:g.(?_ 155982520)_(156244 255_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 155,982,520 | 156,244,255 |
| essv25780132 | Remapped | Perfect | NC_000005.9:g.(?_1 55409530)_(1556712 65_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 155,409,530 | 155,671,265 |
| essv25780132 | Submitted genomic | NC_000005.8:g.(?_1 55342108)_(1556038 43_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 155,342,108 | 155,603,843 |