esv3888227
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 484 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 485 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3888227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 9,548,404 (-0, +5) | 9,548,404 (-5, +0) |
| esv3888227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 9,516,444 (-0, +5) | 9,516,444 (-5, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25173535 | insertion | HG01556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,843 |
| essv25173536 | insertion | NA19316 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,137 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25173535 | Remapped | Perfect | NC_000023.11:g.(95 48404_9548409)_(95 48399_9548404)ins1 38 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 9,548,404 (-0, +5) | 9,548,404 (-5, +0) |
| essv25173536 | Remapped | Perfect | NC_000023.11:g.(95 48404_9548409)_(95 48399_9548404)ins1 38 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 9,548,404 (-0, +5) | 9,548,404 (-5, +0) |
| essv25173535 | Submitted genomic | NC_000023.10:g.(95 16444_9516449)_(95 16439_9516444)ins1 38 | GRCh37 (hg19) | NC_000023.10 | ChrX | 9,516,444 (-0, +5) | 9,516,444 (-5, +0) | ||
| essv25173536 | Submitted genomic | NC_000023.10:g.(95 16444_9516449)_(95 16439_9516444)ins1 38 | GRCh37 (hg19) | NC_000023.10 | ChrX | 9,516,444 (-0, +5) | 9,516,444 (-5, +0) |