esv3689122
- Organism: Homo sapiens
- Study:estd217 (Besenbacher et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 378 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3689122 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,330,315 | 1,330,315 |
esv3689122 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 49,531 | 49,531 |
esv3689122 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,278,481 | 1,278,481 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv16473288 | insertion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16473288 | Remapped | Perfect | NT_187565.1:g.4953 1_49532ins169 | GRCh38.p12 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 49,531 | 49,531 |
essv16473288 | Remapped | Perfect | NC_000008.11:g.133 0315_1330316ins169 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,330,315 | 1,330,315 |
essv16473288 | Submitted genomic | NC_000008.10:g.127 8481_1278482ins169 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,278,481 | 1,278,481 |