esv33998
- Organism: Homo sapiens
- Study:estd48 (Stefansson et al. 2005)
- Variant Type:inversion
- Method Type:Microsatellite genotyping
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:972,651
- Publication(s):Stefansson et al. 2005
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: 3956 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3774 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv33998 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 42,405,178 | 42,405,178 | 43,377,828 | 43,377,828 |
| esv33998 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 40,557,196 | 40,557,196 | 41,455,196 | 41,455,196 |
| esv33998 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000017.8 | Chr17 | 40,930,361 | 41,030,361 | 41,830,361 | 41,930,361 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| essv7033422 | inversion | RP11_BAC_Clones | Microsatellite genotyping | BAC assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7033422 | Remapped | Good | NC_000017.11:g.(42 405178_42405178)_( 43377828_43377828) inv | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 42,405,178 | 42,405,178 | 43,377,828 | 43,377,828 |
| essv7033422 | Remapped | Pass | NC_000017.10:g.(40 557196_40557196)_( 41455196_41455196) inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 40,557,196 | 40,557,196 | 41,455,196 | 41,455,196 |
| essv7033422 | Submitted genomic | NC_000017.8:g.(409 30361_41030361)_(4 1830361_41930361)i nv | NCBI34 (hg16) | NC_000017.8 | Chr17 | 40,930,361 | 41,030,361 | 41,830,361 | 41,930,361 |