esv3848141
- 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:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,763
- 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: 356 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3848141 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
esv3848141 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv20526234 | deletion | HG00346 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,334 |
essv20526235 | deletion | HG03054 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,343 |
essv20526236 | deletion | HG03126 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,992 |
essv20526237 | deletion | HG03169 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,796 |
essv20526238 | deletion | NA19020 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,694 |
essv20526239 | deletion | NA20752 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,736 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv20526234 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526235 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526236 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526237 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526238 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526239 | Remapped | Perfect | NC_000007.14:g.(69 98950_6999072)_(70 16712_7016834)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,999,011 (-61, +61) | 7,016,773 (-61, +61) |
essv20526234 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) | ||
essv20526235 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) | ||
essv20526236 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) | ||
essv20526237 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) | ||
essv20526238 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) | ||
essv20526239 | Submitted genomic | NC_000007.13:g.(70 38581_7038703)_(70 56343_7056465)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 7,038,642 (-61, +61) | 7,056,404 (-61, +61) |