esv3817904
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 551 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817904 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| esv3817904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16938446 | mobile element insertion | SAMN00009117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,753 |
| essv16938447 | mobile element insertion | SAMN00262981 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,961 |
| essv16938448 | mobile element insertion | SAMN01091056 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,207 |
| essv16938449 | mobile element insertion | SAMN00779979 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,212 |
| essv16938450 | mobile element insertion | SAMN00001054 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,219 |
| essv16938451 | mobile element insertion | SAMN00000571 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,230 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16938446 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938447 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938448 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938449 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938450 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938451 | Remapped | Perfect | NC_000023.11:g.229 42134_22942135ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,942,134 | 22,942,134 |
| essv16938446 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 | ||
| essv16938447 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 | ||
| essv16938448 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 | ||
| essv16938449 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 | ||
| essv16938450 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 | ||
| essv16938451 | Submitted genomic | NC_000023.10:g.229 60251_22960252ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,960,251 | 22,960,251 |