A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578761



Internal ID18706959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34370983..34383613hg38UCSC Ensembl
Innerchr10:34659911..34672541hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3812631
hg1912631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv201e212
Supporting Variantsessv9793127, essv9793126, essv9793129, essv9793130, essv9793131, essv9793128
Samples401400NP, 400937OR, 400245SJ, 401155ML, 401315HK, 401552BK
Known GenesPARD3
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)esv3578761
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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