esv3869119
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 135 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3869119 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 122,168,113 (-0, +3) | 122,168,113 (-3, +0) |
| esv3869119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 122,652,660 (-0, +3) | 122,652,660 (-3, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv22988480 | insertion | NA18498 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,953 |
| essv22988481 | insertion | NA18499 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,783 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv22988480 | Remapped | Perfect | NC_000012.12:g.(12 2168113_122168116) _(122168110_122168 113)ins2282 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,168,113 (-0, +3) | 122,168,113 (-3, +0) |
| essv22988481 | Remapped | Perfect | NC_000012.12:g.(12 2168113_122168116) _(122168110_122168 113)ins2282 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 122,168,113 (-0, +3) | 122,168,113 (-3, +0) |
| essv22988480 | Submitted genomic | NC_000012.11:g.(12 2652660_122652663) _(122652657_122652 660)ins2282 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,652,660 (-0, +3) | 122,652,660 (-3, +0) | ||
| essv22988481 | Submitted genomic | NC_000012.11:g.(12 2652660_122652663) _(122652657_122652 660)ins2282 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,652,660 (-0, +3) | 122,652,660 (-3, +0) |