esv7248
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,957
- Publication(s):Ahn et al. 2009
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: 354 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 354 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 119,945,093 | 119,945,135 | 120,029,598 | 120,030,049 |
| esv7248 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 120,866,248 | 120,866,290 | 120,950,753 | 120,951,204 |
| esv7248 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 121,085,696 | 121,085,738 | 121,170,201 | 121,170,652 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29689 | inversion | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29689 | Remapped | Perfect | NC_000004.12:g.(11 9945093_119945135) _(120029598_120030 049)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 119,945,093 | 119,945,135 | 120,029,598 | 120,030,049 |
| essv29689 | Remapped | Perfect | NC_000004.11:g.(12 0866248_120866290) _(120950753_120951 204)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 120,866,248 | 120,866,290 | 120,950,753 | 120,951,204 |
| essv29689 | Submitted genomic | NC_000004.10:g.(12 1085696_121085738) _(121170201_121170 652)inv | NCBI36 (hg18) | NC_000004.10 | Chr4 | 121,085,696 | 121,085,738 | 121,170,201 | 121,170,652 |