A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9794692



Internal ID18317680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:96515251..96710544hg38UCSC Ensembl
Innerchr10:98275008..98470301hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38195294
hg19195294
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577627
Supporting Variants
Samples401117NA
Known GenesPIK3AP1, TM9SF3
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=231
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9794692
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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