A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580186



Internal ID18708384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22202890..22209411hg38UCSC Ensembl
Innerchr12:22355824..22362345hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386522
hg196522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv467e212
Supporting Variantsessv9800823, essv9800817, essv9800820, essv9800818, essv9800824, essv9800819, essv9800821
Samples400493KH, 400131CM, 400127MD, 401855RE, 400383HL, 400378HL, 401567BD
Known GenesST8SIA1
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)esv3580186
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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