A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579179



Internal ID18707377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122575052..122597392hg38UCSC Ensembl
Innerchr10:124334568..124356908hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3822341
hg1922341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9795002, essv9795001
Samples401677MM, 400833BB
Known GenesDMBT1
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)esv3579179
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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