esv4896
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,788
- Publication(s):Wang et al. 2008
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: 231 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4896 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,145,883 | 47,155,670 |
| esv4896 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,223,249 | 45,233,036 |
| esv4896 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,578,248 | 42,588,035 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv27337 | copy number loss | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv27337 | Remapped | Perfect | NC_000017.11:g.(47 145883_?)_(?_47155 670)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,145,883 | 47,155,670 |
| essv27337 | Remapped | Perfect | NC_000017.10:g.(45 223249_?)_(?_45233 036)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,223,249 | 45,233,036 |
| essv27337 | Submitted genomic | NC_000017.9:g.(425 78248_?)_(?_425880 35)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,578,248 | 42,588,035 |