esv3689132
- 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: 352 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 352 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3689132 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,615,795 | 1,615,795 |
| esv3689132 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 28,991 | 28,991 |
| esv3689132 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 225,524 | 225,524 |
| esv3689132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,563,961 | 1,563,961 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16473297 | insertion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16473297 | Remapped | Perfect | NT_187680.1:g.2899 1_28992ins128 | GRCh38.p12 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 28,991 | 28,991 |
| essv16473297 | Remapped | Perfect | NT_187654.1:g.2255 24_225525ins128 | GRCh38.p12 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 225,524 | 225,524 |
| essv16473297 | Remapped | Perfect | NC_000008.11:g.161 5795_1615796ins128 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,615,795 | 1,615,795 |
| essv16473297 | Submitted genomic | NC_000008.10:g.156 3961_1563962ins128 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,563,961 | 1,563,961 |