esv3618713
- 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: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: 245 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3618713 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 125,218,370 (-0, +5) | 125,218,374 (-5, +0) |
| esv3618713 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 126,230,612 (-0, +5) | 126,230,616 (-5, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13315988 | insertion | SAMN00000420 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,759 |
| essv13315989 | insertion | SAMN00000524 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,734 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13315988 | Remapped | Perfect | NC_000008.11:g.(12 5218370_125218375) _(125218369_125218 374)ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 125,218,370 (-0, +5) | 125,218,374 (-5, +0) |
| essv13315989 | Remapped | Perfect | NC_000008.11:g.(12 5218370_125218375) _(125218369_125218 374)ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 125,218,370 (-0, +5) | 125,218,374 (-5, +0) |
| essv13315988 | Submitted genomic | NC_000008.10:g.(12 6230612_126230617) _(126230611_126230 616)ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 126,230,612 (-0, +5) | 126,230,616 (-5, +0) | ||
| essv13315989 | Submitted genomic | NC_000008.10:g.(12 6230612_126230617) _(126230611_126230 616)ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 126,230,612 (-0, +5) | 126,230,616 (-5, +0) |