A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582856



Internal ID18364368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63860629..63899920hg38UCSC Ensembl
Innerchr17:61937989..61977280hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3839292
hg1939292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815176, essv9815175
Samples401176BD, 401607LL
Known GenesCSH1, CSH2, GH2, TCAM1P
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)esv3582856
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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