A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578938



Internal ID18360450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:62807340..62810361hg38UCSC Ensembl
Innerchr10:64567100..64570121hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg383022
hg193022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249e212
Supporting Variantsessv9793884, essv9793883
Samples400773GS, 401133JG
Known GenesADO
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)esv3578938
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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