A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575829



Internal ID18357341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32170507hg38UCSC Ensembl
Innerchr5:32102719..32170613hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3867895
hg1967895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1591e212
Supporting Variantsessv9774473, essv9774474
Samples400739SS, 400982BS
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3575829
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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