A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583669



Internal ID18711867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24187811..24201019hg38UCSC Ensembl
Innerchr2:24410680..24423888hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3813209
hg1913209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816355, essv9816366, essv9816344, essv9816322, essv9816333
Samples400364SS, 401592NR, 401493HC, 400571WV, 401112LG
Known GenesFAM228A
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)esv3583669
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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