esv3644180
- 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:81,414
- 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: 444 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3644180 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 32,878,182 (-185, +185) | 32,959,595 (-185, +185) |
| esv3644180 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 33,369,088 (-185, +185) | 33,450,501 (-185, +185) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16041342 | inversion | SAMN00009154 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,953 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16041342 | Remapped | Perfect | NC_000019.10:g.(32 877997_32878367)_( 32959410_32959780) inv | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 32,878,182 (-185, +185) | 32,959,595 (-185, +185) |
| essv16041342 | Submitted genomic | NC_000019.9:g.(333 68903_33369273)_(3 3450316_33450686)i nv | GRCh37 (hg19) | NC_000019.9 | Chr19 | 33,369,088 (-185, +185) | 33,450,501 (-185, +185) |