A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9811913



Internal ID18301731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79668676..80101641hg38UCSC Ensembl
Innerchr16:79702573..80135538hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38432966
hg19432966
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572208
Supporting Variants
Samples400629BM
Known GenesLOC101928248, LOC102467146
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
CommentsNumber of probes=420
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9811913
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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