esv2951017
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36
- Publication(s):Pang et al. 2014
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: 134 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2951017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 54,754,709 | 54,754,744 |
esv2951017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 52,832,070 | 52,832,105 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7220584 | insertion | HuRef | Sequencing | Split read mapping | 471,817 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv7220584 | Remapped | Perfect | NC_000017.11:g.547 54709_54754744insC TGCCAGGGGTCCAACTCT TACAGAGGGCACGGCGGT CGGCC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,754,709 | 54,754,744 |
essv7220584 | Submitted genomic | NC_000017.10:g.528 32070_52832105insC TGCCAGGGGTCCAACTCT TACAGAGGGCACGGCGGT CGGCC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,832,070 | 52,832,105 |