esv3603169
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,113
- 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: 278 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3603169 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 171,496,871 (-125, +125) | 171,499,983 (-125, +125) |
| esv3603169 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 172,418,022 (-125, +125) | 172,421,134 (-125, +125) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv11699411 | inversion | SAMN00255118 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,217 |
| essv11699412 | inversion | SAMN00630197 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,192 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11699411 | Remapped | Perfect | NC_000004.12:g.(17 1496746_171496996) _(171499858_171500 108)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,496,871 (-125, +125) | 171,499,983 (-125, +125) |
| essv11699412 | Remapped | Perfect | NC_000004.12:g.(17 1496746_171496996) _(171499858_171500 108)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 171,496,871 (-125, +125) | 171,499,983 (-125, +125) |
| essv11699411 | Submitted genomic | NC_000004.11:g.(17 2417897_172418147) _(172421009_172421 259)inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,418,022 (-125, +125) | 172,421,134 (-125, +125) | ||
| essv11699412 | Submitted genomic | NC_000004.11:g.(17 2417897_172418147) _(172421009_172421 259)inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 172,418,022 (-125, +125) | 172,421,134 (-125, +125) |