esv3644091
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,487
- 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: 179 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3644091 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 28,024,667 (-108, +108) | 28,032,153 (-108, +108) |
| esv3644091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 28,515,574 (-108, +108) | 28,523,060 (-108, +108) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16031399 | inversion | SAMN00249892 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,799 |
| essv16031400 | inversion | SAMN00249939 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,771 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16031399 | Remapped | Perfect | NC_000019.10:g.(28 024559_28024775)_( 28032045_28032261) inv | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 28,024,667 (-108, +108) | 28,032,153 (-108, +108) |
| essv16031400 | Remapped | Perfect | NC_000019.10:g.(28 024559_28024775)_( 28032045_28032261) inv | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 28,024,667 (-108, +108) | 28,032,153 (-108, +108) |
| essv16031399 | Submitted genomic | NC_000019.9:g.(285 15466_28515682)_(2 8522952_28523168)i nv | GRCh37 (hg19) | NC_000019.9 | Chr19 | 28,515,574 (-108, +108) | 28,523,060 (-108, +108) | ||
| essv16031400 | Submitted genomic | NC_000019.9:g.(285 15466_28515682)_(2 8522952_28523168)i nv | GRCh37 (hg19) | NC_000019.9 | Chr19 | 28,515,574 (-108, +108) | 28,523,060 (-108, +108) |