A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581549



Internal ID18709747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47555220..47651865hg38UCSC Ensembl
Innerchr12:47949003..48045648hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3896646
hg1996646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv485e212
Supporting Variantsessv9801349
Samples401348RB
Known Genes
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)esv3581549
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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