A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581060



Internal ID18709258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19314225..19424201hg38UCSC Ensembl
Innerchr12:19467159..19577135hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109977
hg19109977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464e212
Supporting Variantsessv9800783, essv9800785, essv9800784, essv9800781, essv9800779, essv9800782, essv9800780
Samples400316SL, 401285HN, 401503MJ, 400994HJ, 401419SW, 400124FR, 400050RL
Known GenesPLEKHA5
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)esv3581060
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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