A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570149



Internal ID18698347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54451477..54458201hg38UCSC Ensembl
Innerchr5:53747307..53754031hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386725
hg196725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1606e212
Supporting Variantsessv9774786, essv9774785
Samples400203NA, 401894PD
Known GenesHSPB3
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)esv3570149
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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