A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582409



Internal ID18363921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83520535..83529642hg38UCSC Ensembl
Innerchr16:83554140..83563247hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg389108
hg199108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812050, essv9812041, essv9812046, essv9812037, essv9812053, essv9812058, essv9812048, essv9812036, essv9812035, essv9812043, essv9812038, essv9812054, essv9812039, essv9812045, essv9812051, essv9812042, essv9812061, essv9812040, essv9812057, essv9812052, essv9812059, essv9812056, essv9812047, essv9812060, essv9812049, essv9812034
Samples400908PJ, 400554WB, 400455SJ, 401330RR, 401434VN, 401136LB, 400893ZE, 401695BT, 401687LR, 400343BD, 401214BJ, 400127MD, 401406KF, 400002HK, 401873BK, 400763BT, 401725MR, 401027KW, 401863BD, 401864CV, 401630MK, 401075MN, 401414CR, 400108BJ, 400261RN, 401482CB
Known GenesCDH13
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)esv3582409
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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