esv3689129
- 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: 361 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 361 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3689129 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,561,290 | 1,561,290 |
| esv3689129 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 172,249 | 172,249 |
| esv3689129 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 266,822 | 266,822 |
| esv3689129 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,509,456 | 1,509,456 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16473294 | insertion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16473294 | Remapped | Perfect | NT_187654.1:g.1722 49_172250ins140 | GRCh38.p12 | Second Pass | NT_187654.1 | Chr8|NT_18 7654.1 | 172,249 | 172,249 |
| essv16473294 | Remapped | Perfect | NT_187565.1:g.2668 22_266823ins140 | GRCh38.p12 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 266,822 | 266,822 |
| essv16473294 | Remapped | Perfect | NC_000008.11:g.156 1290_1561291ins140 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,561,290 | 1,561,290 |
| essv16473294 | Submitted genomic | NC_000008.10:g.150 9456_1509457ins140 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,509,456 | 1,509,456 |