esv3601734
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,704
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 113 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3601734 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 109,214,036 (-92, +92) | 109,215,739 (-92, +92) |
| esv3601734 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 110,135,192 (-92, +92) | 110,136,895 (-92, +92) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11559983 | inversion | SAMN00000445 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,870 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11559983 | Remapped | Perfect | NC_000004.12:g.(10 9213944_109214128) _(109215647_109215 831)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 109,214,036 (-92, +92) | 109,215,739 (-92, +92) |
| essv11559983 | Submitted genomic | NC_000004.11:g.(11 0135100_110135284) _(110136803_110136 987)inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 110,135,192 (-92, +92) | 110,136,895 (-92, +92) |