A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577793



Internal ID18705991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122574679..122598197hg38UCSC Ensembl
Innerchr10:124334195..124357713hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3823519
hg1923519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794998, essv9794999
Samples400241CP, 400543CK
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)esv3577793
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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