esv3310442
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:821
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 108 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310442 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 121,226,392 | 121,227,212 | 121,226,392 | 121,227,212 |
| esv3310442 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 121,547,538 | 121,548,358 | 121,547,538 | 121,548,358 |
| esv3310442 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 121,589,237 | 121,590,057 | 121,589,237 | 121,590,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843528 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843528 | Remapped | Perfect | NC_000006.12:g.(12 1226392_121227212) _(121226392_121227 212)ins448 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 121,226,392 | 121,227,212 | 121,226,392 | 121,227,212 |
| essv7843528 | Remapped | Perfect | NC_000006.11:g.(12 1547538_121548358) _(121547538_121548 358)ins448 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 121,547,538 | 121,548,358 | 121,547,538 | 121,548,358 |
| essv7843528 | Submitted genomic | NC_000006.10:g.(12 1589237_121590057) _(121589237_121590 057)ins448 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 121,589,237 | 121,590,057 | 121,589,237 | 121,590,057 |