A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv279e212



Internal ID22783206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102511434..102513574hg38UCSC Ensembl
chr10:104271191..104273331hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg382141
hg192141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579096, esv3579095
Samples400987FB, 400241CP, 400411TG, 400302HW, 400124FR, 400328LM, 401912HD
Known GenesSUFU
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)dgv279e212
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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