esv4009088
- Organism: Homo sapiens
- Study:estd231 (Wong et al. 2017)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,209
- Publication(s):Wong et al. 2017
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: 630 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 630 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4009088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 159,132,851 | 159,164,059 |
| esv4009088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 158,925,542 | 158,956,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| essv26065480 | inversion | Sequencing | Split read and paired-end mapping | Juvenile idiopathic arthritis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26065480 | Remapped | Perfect | NC_000007.14:g.159 132851_159164059in v | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 159,132,851 | 159,164,059 |
| essv26065480 | Submitted genomic | NC_000007.13:g.158 925542_158956750in v | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,925,542 | 158,956,750 |