A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570488



Internal ID18698686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147878114..147882249hg38UCSC Ensembl
Innerchr5:147257677..147261812hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384136
hg194136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9776368, essv9776365, essv9776367, essv9776363, essv9776364
Samples400827MM, 400854SG, 400362TV, 400205SP, 401153HS
Known GenesSCGB3A2
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)esv3570488
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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