esv3689135
- 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: 394 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3689135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,860,316 | 1,860,316 |
| esv3689135 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 43,692 | 43,692 |
| esv3689135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,808,482 | 1,808,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16473300 | insertion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16473300 | Remapped | Perfect | NT_187576.1:g.4369 2_43693ins67 | GRCh38.p12 | Second Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 43,692 | 43,692 |
| essv16473300 | Remapped | Perfect | NC_000008.11:g.186 0316_1860317ins67 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,860,316 | 1,860,316 |
| essv16473300 | Submitted genomic | NC_000008.10:g.180 8482_1808483ins67 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,808,482 | 1,808,482 |