A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575892



Internal ID18357404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:156975204..157220778hg38UCSC Ensembl
Innerchr5:156402215..156647788hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38245575
hg19245574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9776584
Samples401942MP
Known GenesFAM71B, HAVCR1, HAVCR2, ITK, MED7
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)esv3575892
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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