esv3410175
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:111
- 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: 97 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 59 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3410175 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 192,419,894 (-25, +23) | 192,420,004 (-25, +25) |
| esv3410175 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 192,137,683 (-25, +23) | 192,137,793 (-25, +25) |
| esv3410175 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 193,620,377 (-25, +23) | 193,620,487 (-25, +25) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8917135 | insertion | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
| essv8917137 | insertion | SAMN00001669 | Sequencing | Paired-end mapping | 5,311 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8917135 | Remapped | Perfect | NC_000003.12:g.(19 2419869_192419917) _(192419979_192420 029)ins3430 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,419,894 (-25, +23) | 192,420,004 (-25, +25) |
| essv8917137 | Remapped | Perfect | NC_000003.12:g.(19 2419869_192419917) _(192419979_192420 029)ins3430 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,419,894 (-25, +23) | 192,420,004 (-25, +25) |
| essv8917135 | Remapped | Perfect | NC_000003.11:g.(19 2137658_192137706) _(192137768_192137 818)ins3430 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 192,137,683 (-25, +23) | 192,137,793 (-25, +25) |
| essv8917137 | Remapped | Perfect | NC_000003.11:g.(19 2137658_192137706) _(192137768_192137 818)ins3430 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 192,137,683 (-25, +23) | 192,137,793 (-25, +25) |
| essv8917135 | Submitted genomic | NC_000003.10:g.(19 3620352_193620400) _(193620462_193620 512)ins3430 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 193,620,377 (-25, +23) | 193,620,487 (-25, +25) | ||
| essv8917137 | Submitted genomic | NC_000003.10:g.(19 3620352_193620400) _(193620462_193620 512)ins3430 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 193,620,377 (-25, +23) | 193,620,487 (-25, +25) |