A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9774477



Internal ID18329541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32109436..32155265hg38UCSC Ensembl
Innerchr5:32109542..32155371hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3845830
hg1945830
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575833
Supporting Variants
Samples401474CE
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
CommentsNumber of probes=54
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9774477
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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