A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584577



Internal ID18423361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7780639..7930440hg38UCSC Ensembl
Innerchr8:7638161..7787962hg19UCSC Ensembl
Innerchr8:7675571..7825372hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38149802
hg19149802
hg18149802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838906
SamplesKSM008
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584577
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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