A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579049



Internal ID18360561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87917350..87920962hg38UCSC Ensembl
Innerchr10:89677107..89680719hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg383613
hg193613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794559, essv9794558
Samples400168HC, 400508RD
Known GenesPTEN
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3579049
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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