esv3861942
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,025
- 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: 139 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3861942 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 107,880,992 (-29, +30) | 107,892,016 (-29, +30) |
esv3861942 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 109,640,750 (-29, +30) | 109,651,774 (-29, +30) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv22140408 | deletion | HG00620 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,139 |
essv22140409 | deletion | HG01912 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,224 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv22140408 | Remapped | Perfect | NC_000010.11:g.(10 7880963_107881022) _(107891987_107892 046)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 107,880,992 (-29, +30) | 107,892,016 (-29, +30) |
essv22140409 | Remapped | Perfect | NC_000010.11:g.(10 7880963_107881022) _(107891987_107892 046)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 107,880,992 (-29, +30) | 107,892,016 (-29, +30) |
essv22140408 | Submitted genomic | NC_000010.10:g.(10 9640721_109640780) _(109651745_109651 804)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 109,640,750 (-29, +30) | 109,651,774 (-29, +30) | ||
essv22140409 | Submitted genomic | NC_000010.10:g.(10 9640721_109640780) _(109651745_109651 804)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 109,640,750 (-29, +30) | 109,651,774 (-29, +30) |