A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584574



Internal ID18423358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392858..7941329hg38UCSC Ensembl
Innerchr8:7250380..7798851hg19UCSC Ensembl
Innerchr8:7237790..7836261hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38548472
hg19548472
hg18598472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837937
SamplesB4
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, 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)esv3584574
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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