A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582139



Internal ID18710337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32499858..34012080hg38UCSC Ensembl
Innerchr16:32511179..33814547hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381512223
hg191303369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv817e212
Supporting Variantsessv9810536, essv9810537
Samples400424LN, 400542EG
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
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)esv3582139
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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