A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782652



Internal ID18673974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167932628..168210651hg38UCSC Ensembl
Innerchr6:168333308..168611331hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38278024
hg19278024
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576259
Supporting Variants
Samples401403TD
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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=276
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782652
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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