A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580165



Internal ID18361677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18467785..18475172hg38UCSC Ensembl
Innerchr12:18620719..18628106hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387388
hg197388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800770, essv9800766, essv9800769, essv9800768
Samples401538NS, 400663MD, 400733SW, 400686BM
Known GenesPIK3C2G
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)esv3580165
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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