esv3593971
- 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:12
- 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: 153 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3593971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 201,059,706 (-0, +12) | 201,059,717 (-12, +0) |
| esv3593971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 201,924,429 (-0, +12) | 201,924,440 (-12, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10823001 | insertion | SAMN00001107 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,555 |
| essv10823002 | insertion | SAMN00001327 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,803 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10823001 | Remapped | Perfect | NC_000002.12:g.(20 1059706_201059718) _(201059705_201059 717)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,059,706 (-0, +12) | 201,059,717 (-12, +0) |
| essv10823002 | Remapped | Perfect | NC_000002.12:g.(20 1059706_201059718) _(201059705_201059 717)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,059,706 (-0, +12) | 201,059,717 (-12, +0) |
| essv10823001 | Submitted genomic | NC_000002.11:g.(20 1924429_201924441) _(201924428_201924 440)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,924,429 (-0, +12) | 201,924,440 (-12, +0) | ||
| essv10823002 | Submitted genomic | NC_000002.11:g.(20 1924429_201924441) _(201924428_201924 440)ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 201,924,429 (-0, +12) | 201,924,440 (-12, +0) |