esv3448890
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:161
- 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: 82 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3448890 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 135,833,846 (-78, +76) | 135,834,006 (-78, +76) |
| esv3448890 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 135,552,688 (-78, +76) | 135,552,848 (-78, +76) |
| esv3448890 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 137,035,378 (-78, +76) | 137,035,538 (-78, +76) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8915537 | insertion | SAMN00797406 | Sequencing | Paired-end mapping | 9,724 |
| essv8915538 | insertion | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
| essv8915539 | insertion | SAMN00001623 | Sequencing | Paired-end mapping | 10,870 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8915537 | Remapped | Perfect | NC_000003.12:g.(13 5833768_135833922) _(135833928_135834 082)ins5059 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 135,833,846 (-78, +76) | 135,834,006 (-78, +76) |
| essv8915538 | Remapped | Perfect | NC_000003.12:g.(13 5833768_135833922) _(135833928_135834 082)ins5059 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 135,833,846 (-78, +76) | 135,834,006 (-78, +76) |
| essv8915539 | Remapped | Perfect | NC_000003.12:g.(13 5833768_135833922) _(135833928_135834 082)ins5059 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 135,833,846 (-78, +76) | 135,834,006 (-78, +76) |
| essv8915537 | Remapped | Perfect | NC_000003.11:g.(13 5552610_135552764) _(135552770_135552 924)ins5059 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 135,552,688 (-78, +76) | 135,552,848 (-78, +76) |
| essv8915538 | Remapped | Perfect | NC_000003.11:g.(13 5552610_135552764) _(135552770_135552 924)ins5059 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 135,552,688 (-78, +76) | 135,552,848 (-78, +76) |
| essv8915539 | Remapped | Perfect | NC_000003.11:g.(13 5552610_135552764) _(135552770_135552 924)ins5059 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 135,552,688 (-78, +76) | 135,552,848 (-78, +76) |
| essv8915537 | Submitted genomic | NC_000003.10:g.(13 7035300_137035454) _(137035460_137035 614)ins5059 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 137,035,378 (-78, +76) | 137,035,538 (-78, +76) | ||
| essv8915538 | Submitted genomic | NC_000003.10:g.(13 7035300_137035454) _(137035460_137035 614)ins5059 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 137,035,378 (-78, +76) | 137,035,538 (-78, +76) | ||
| essv8915539 | Submitted genomic | NC_000003.10:g.(13 7035300_137035454) _(137035460_137035 614)ins5059 | NCBI36 (hg18) | NC_000003.10 | Chr3 | 137,035,378 (-78, +76) | 137,035,538 (-78, +76) |