A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9778905



Internal ID18331537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31416303..31489856hg38UCSC Ensembl
Innerchr6:31384080..31457633hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3873554
hg1973554
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576141
Supporting Variants
Samples401517PR
Known GenesHCG26, HCP5
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
CommentsNumber of probes=110
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9778905
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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