esv3889571
- 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:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,338
- 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: 453 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 453 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3889571 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
esv3889571 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25492974 | deletion | HG01366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,679 |
essv25492975 | deletion | HG03006 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,556 |
essv25492976 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
essv25492977 | deletion | HG03940 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,226 |
essv25492978 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
essv25492979 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
essv25492980 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
essv25492981 | deletion | NA20533 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,922 |
essv25492982 | deletion | NA21092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,352 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25492974 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492975 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492976 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492977 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492978 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492979 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492980 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492981 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492982 | Remapped | Perfect | NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,020,777 (-51, +52) | 96,036,114 (-51, +52) |
essv25492974 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492975 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492976 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492977 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492978 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492979 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492980 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492981 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) | ||
essv25492982 | Submitted genomic | NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 95,275,776 (-51, +52) | 95,291,113 (-51, +52) |