A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810109



Internal ID18298718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16200849..16422252hg38UCSC Ensembl
Innerchr16:16294706..16516109hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38221404
hg19221404
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570398
Supporting Variants
Samples400553PP
Known GenesABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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=94
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810109
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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