esv3641289
- 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:415
- 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: 129 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3641289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 76,448,061 (-0, +415) | 76,448,475 (-415, +0) |
esv3641289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 74,444,143 (-0, +415) | 74,444,557 (-415, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv15744093 | insertion | SAMN00014342 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,805 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv15744093 | Remapped | Perfect | NC_000017.11:g.(76 448061_76448476)_( 76448060_76448475) ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,448,061 (-0, +415) | 76,448,475 (-415, +0) |
essv15744093 | Submitted genomic | NC_000017.10:g.(74 444143_74444558)_( 74444142_74444557) ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 74,444,143 (-0, +415) | 74,444,557 (-415, +0) |