A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809790



Internal ID18322696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3829600..3843150hg38UCSC Ensembl
Innerchr16:3879601..3893151hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3813551
hg1913551
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581943
Supporting Variants
Samples401275SJ
Known GenesCREBBP
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=24
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809790
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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