A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581696



Internal ID18363208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49445293..49454167hg38UCSC Ensembl
Innerchr15:49737490..49746364hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg388875
hg198875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808707, essv9808706
Samples400553PP, 400791GC
Known GenesFAM227B, FGF7
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)esv3581696
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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