esv3310503
- 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:730
- 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: 75 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 5 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3310503 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 54,708,881 | 54,709,610 | 54,708,881 | 54,709,610 |
esv3310503 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 55,175,599 | 55,176,328 | 55,175,599 | 55,176,328 |
esv3310503 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 54,245,349 | 54,246,078 | 54,245,349 | 54,246,078 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7843507 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv7843507 | Remapped | Perfect | NC_000014.9:g.(547 08881_54709610)_(5 4708881_54709610)i ns539 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 54,708,881 | 54,709,610 | 54,708,881 | 54,709,610 |
essv7843507 | Remapped | Perfect | NC_000014.8:g.(551 75599_55176328)_(5 5175599_55176328)i ns539 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 55,175,599 | 55,176,328 | 55,175,599 | 55,176,328 |
essv7843507 | Submitted genomic | NC_000014.7:g.(542 45349_54246078)_(5 4245349_54246078)i ns539 | NCBI36 (hg18) | NC_000014.7 | Chr14 | 54,245,349 | 54,246,078 | 54,245,349 | 54,246,078 |