esv3680548
- Organism: Homo sapiens
- Study:estd217 (Besenbacher et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,108
- Publication(s):Besenbacher 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: 241 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3680548 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 218,009,146 | 218,015,253 |
esv3680548 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 218,182,488 | 218,188,595 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv16501698 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16501698 | Remapped | Perfect | NC_000001.11:g.218 009146_218015253de l6106 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 218,009,146 | 218,015,253 |
essv16501698 | Submitted genomic | NC_000001.10:g.218 182488_218188595de l6106 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 218,182,488 | 218,188,595 |