esv3884335
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:373
- 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: 153 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3884335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,842,650 | 55,843,022 |
| esv3884335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 56,354,016 | 56,354,388 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24712525 | alu deletion | HG00250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,391 |
| essv24712526 | alu deletion | NA20516 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,702 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24712525 | Remapped | Perfect | NC_000019.10:g.558 42650_55843022del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,842,650 | 55,843,022 |
| essv24712526 | Remapped | Perfect | NC_000019.10:g.558 42650_55843022del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,842,650 | 55,843,022 |
| essv24712525 | Submitted genomic | NC_000019.9:g.5635 4016_56354388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 56,354,016 | 56,354,388 | ||
| essv24712526 | Submitted genomic | NC_000019.9:g.5635 4016_56354388del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 56,354,016 | 56,354,388 |