A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575241



Internal ID18356753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45185766..45749281hg38UCSC Ensembl
Innerchr2:45412905..45976420hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38563516
hg19563516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1119e212
Supporting Variantsessv9822722
Samples400583HS
Known GenesLINC01121, PRKCE, SRBD1
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)esv3575241
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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