esv3874732
- 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:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,323
- 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: 516 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 516 SVs from 75 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3874732 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
esv3874732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv23704186 | deletion | HG00128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,155 |
essv23704187 | deletion | HG00138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,435 |
essv23704188 | deletion | HG00145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,533 |
essv23704189 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
essv23704190 | deletion | NA11920 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,312 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv23704186 | Remapped | Perfect | NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
essv23704187 | Remapped | Perfect | NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
essv23704188 | Remapped | Perfect | NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
essv23704189 | Remapped | Perfect | NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
essv23704190 | Remapped | Perfect | NC_000015.10:g.(34 637565_34637566)_( 34690887_34690888) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,565 (-0, +1) | 34,690,887 (-0, +1) |
essv23704186 | Submitted genomic | NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) | ||
essv23704187 | Submitted genomic | NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) | ||
essv23704188 | Submitted genomic | NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) | ||
essv23704189 | Submitted genomic | NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) | ||
essv23704190 | Submitted genomic | NC_000015.9:g.(349 29766_34929767)_(3 4983088_34983089)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,766 (-0, +1) | 34,983,088 (-0, +1) |