esv3633884
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:379
- 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: 155 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3633884 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 27,598,530 (-0, +379) | 27,598,908 (-379, +0) |
esv3633884 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 28,067,736 (-0, +379) | 28,068,114 (-379, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv14947463 | insertion | SAMN01036779 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,152 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv14947463 | Remapped | Perfect | NC_000014.9:g.(275 98530_27598909)_(2 7598529_27598908)i ns? | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 27,598,530 (-0, +379) | 27,598,908 (-379, +0) |
essv14947463 | Submitted genomic | NC_000014.8:g.(280 67736_28068115)_(2 8067735_28068114)i ns? | GRCh37 (hg19) | NC_000014.8 | Chr14 | 28,067,736 (-0, +379) | 28,068,114 (-379, +0) |