esv3450194
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121
- 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: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 9 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3450194 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 115,180,755 (-120, +120) | 115,180,875 (-122, +120) |
esv3450194 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 114,516,452 (-120, +120) | 114,516,572 (-122, +120) |
esv3450194 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 114,544,351 (-120, +120) | 114,544,471 (-122, +120) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8675759 | insertion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv8675759 | Remapped | Perfect | NC_000005.10:g.(11 5180635_115180875) _(115180753_115180 995)ins76 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,180,755 (-120, +120) | 115,180,875 (-122, +120) |
essv8675759 | Remapped | Perfect | NC_000005.9:g.(114 516332_114516572)_ (114516450_1145166 92)ins76 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 114,516,452 (-120, +120) | 114,516,572 (-122, +120) |
essv8675759 | Submitted genomic | NC_000005.8:g.(114 544231_114544471)_ (114544349_1145445 91)ins76 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 114,544,351 (-120, +120) | 114,544,471 (-122, +120) |