A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9794984



Internal ID18345094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:117242558..117339387hg38UCSC Ensembl
Innerchr10:119002069..119098898hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3896830
hg1996830
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577760
Supporting Variants
Samples401927SK
Known GenesPDZD8, SLC18A2
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=108
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9794984
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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