esv3855227
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,046
- 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: 265 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3855227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 112,600,436 (-419, +419) | 112,615,481 (-419, +419) |
| esv3855227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 113,612,665 (-419, +419) | 113,627,710 (-419, +419) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21321175 | inversion | NA20882 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,336 |
| essv21321176 | inversion | NA20900 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,403 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21321175 | Remapped | Perfect | NC_000008.11:g.(11 2600017_112600855) _(112615062_112615 900)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 112,600,436 (-419, +419) | 112,615,481 (-419, +419) |
| essv21321176 | Remapped | Perfect | NC_000008.11:g.(11 2600017_112600855) _(112615062_112615 900)inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 112,600,436 (-419, +419) | 112,615,481 (-419, +419) |
| essv21321175 | Submitted genomic | NC_000008.10:g.(11 3612246_113613084) _(113627291_113628 129)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 113,612,665 (-419, +419) | 113,627,710 (-419, +419) | ||
| essv21321176 | Submitted genomic | NC_000008.10:g.(11 3612246_113613084) _(113627291_113628 129)inv | GRCh37 (hg19) | NC_000008.10 | Chr8 | 113,612,665 (-419, +419) | 113,627,710 (-419, +419) |