A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582309



Internal ID18710507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74350347..74418125hg38UCSC Ensembl
Innerchr16:74384245..74452023hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3867779
hg1967779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv852e212
Supporting Variantsessv9811276, essv9811277
Samples400643LD, 401538NS
Known GenesCLEC18B, LOC283922
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)esv3582309
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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