A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9799933



Internal ID18318715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5598006..6123173hg38UCSC Ensembl
Innerchr12:5707172..6232339hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38525168
hg19525168
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580088
Supporting Variants
Samples401153HS
Known GenesANO2, VWF
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=843
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9799933
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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