esv3598377
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10
- 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: 126 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3598377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 160,144,534 (-0, +10) | 160,144,543 (-10, +0) |
| esv3598377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 159,862,321 (-0, +10) | 159,862,330 (-10, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11199614 | insertion | SAMN00001106 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,434 |
| essv11199615 | insertion | SAMN00001243 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,818 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11199614 | Remapped | Perfect | NC_000003.12:g.(16 0144534_160144544) _(160144533_160144 543)ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 160,144,534 (-0, +10) | 160,144,543 (-10, +0) |
| essv11199615 | Remapped | Perfect | NC_000003.12:g.(16 0144534_160144544) _(160144533_160144 543)ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 160,144,534 (-0, +10) | 160,144,543 (-10, +0) |
| essv11199614 | Submitted genomic | NC_000003.11:g.(15 9862321_159862331) _(159862320_159862 330)ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 159,862,321 (-0, +10) | 159,862,330 (-10, +0) | ||
| essv11199615 | Submitted genomic | NC_000003.11:g.(15 9862321_159862331) _(159862320_159862 330)ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 159,862,321 (-0, +10) | 159,862,330 (-10, +0) |