A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3582409

Internal ID18363921
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83520535..83529642hg38UCSC Ensembl
Innerchr16:83554140..83563247hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812036, essv9812053, essv9812060, essv9812047, essv9812034, essv9812041, essv9812042, essv9812052, essv9812054, essv9812059, essv9812045, essv9812046, essv9812048, essv9812050, essv9812049, essv9812058, essv9812057, essv9812038, essv9812061, essv9812043, essv9812035, essv9812051, essv9812040, essv9812056, essv9812039, essv9812037
Samples400908PJ, 401482CB, 400261RN, 401136LB, 401434VN, 401414CR, 401027KW, 401075MN, 400343BD, 400893ZE, 400002HK, 401630MK, 401725MR, 401864CV, 401330RR, 401214BJ, 401873BK, 401863BD, 401406KF, 401687LR, 401695BT, 400763BT, 400108BJ, 400554WB, 400455SJ, 400127MD
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
Pubmed ID25503493
Accession Number(s)esv3582409
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0

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