A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568956



Internal ID18350468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108697937..108934542hg38UCSC Ensembl
Innerchr3:108416784..108653389hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38236606
hg19236606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9767735
Samples400354TJ
Known GenesGUCA1C, RETNLB, TRAT1
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)esv3568956
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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