A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9780885



Internal ID18680115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:79528311..79781361hg38UCSC Ensembl
Innerchr6:80238028..80491078hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38253051
hg19253051
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576196
Supporting Variants
Samples401589HP
Known GenesLCA5, RNY4, SH3BGRL2
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=220
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9780885
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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