A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv852e212



Internal ID22783779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74331674..74432668hg38UCSC Ensembl
chr16:74365572..74466566hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38100995
hg19100995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582307, esv3582314, esv3582309, esv3582312, esv3582310, esv3582315
Samples400145BL, 401819BS, 401857VG, 400643LD, 400558BL, 401936BA, 401538NS, 400577MK, 400123WN, 401952UH, 400705KK, 400430KV, 400376SJ, 401681MS
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)dgv852e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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