esv3625153
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 101 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3625153 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 3,739,662 (-0, +5) | 3,739,666 (-5, +0) |
esv3625153 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 3,760,892 (-0, +5) | 3,760,896 (-5, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13997027 | insertion | SAMN01761437 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,971 |
essv13997028 | insertion | SAMN01761508 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,844 |
essv13997029 | insertion | SAMN01761488 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,895 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13997027 | Remapped | Perfect | NC_000011.10:g.(37 39662_3739667)_(37 39661_3739666)ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 3,739,662 (-0, +5) | 3,739,666 (-5, +0) |
essv13997028 | Remapped | Perfect | NC_000011.10:g.(37 39662_3739667)_(37 39661_3739666)ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 3,739,662 (-0, +5) | 3,739,666 (-5, +0) |
essv13997029 | Remapped | Perfect | NC_000011.10:g.(37 39662_3739667)_(37 39661_3739666)ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 3,739,662 (-0, +5) | 3,739,666 (-5, +0) |
essv13997027 | Submitted genomic | NC_000011.9:g.(376 0892_3760897)_(376 0891_3760896)ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 3,760,892 (-0, +5) | 3,760,896 (-5, +0) | ||
essv13997028 | Submitted genomic | NC_000011.9:g.(376 0892_3760897)_(376 0891_3760896)ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 3,760,892 (-0, +5) | 3,760,896 (-5, +0) | ||
essv13997029 | Submitted genomic | NC_000011.9:g.(376 0892_3760897)_(376 0891_3760896)ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 3,760,892 (-0, +5) | 3,760,896 (-5, +0) |