esv2054371
- Organism: Homo sapiens
- Study:estd194 (Bentley et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 101 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2054371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 79,499,524 | 79,499,524 |
| esv2054371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 78,795,347 | 78,795,347 |
| esv2054371 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 78,831,103 | 78,831,103 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv4535654 | Remapped | Perfect | NC_000005.10:g.794 99524_79499525insA CTT | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 79,499,524 | 79,499,524 |
| essv4535654 | Remapped | Perfect | NC_000005.9:g.7879 5347_78795348insAC TT | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 78,795,347 | 78,795,347 |
| essv4535654 | Submitted genomic | NC_000005.8:g.7883 1103_78831104insAC TT | NCBI36 (hg18) | NC_000005.8 | Chr5 | 78,831,103 | 78,831,103 |