esv2018684
- Organism: Homo sapiens
- Study:estd194 (Bentley 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:5
- Publication(s):Bentley 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: 296 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 178 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2018684 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 10,266,845 | 10,266,849 |
| esv2018684 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 10,266,957 | 10,266,961 |
| esv2018684 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 10,319,957 | 10,319,961 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv4825417 | Remapped | Perfect | NC_000005.10:g.102 66845_10266849delT GAA | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 10,266,845 | 10,266,849 |
| essv4825417 | Remapped | Perfect | NC_000005.9:g.1026 6957_10266961delTG AA | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 10,266,957 | 10,266,961 |
| essv4825417 | Submitted genomic | NC_000005.8:g.1031 9957_10319961delTG AA | NCBI36 (hg18) | NC_000005.8 | Chr5 | 10,319,957 | 10,319,961 |