A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581187



Internal ID18709385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47757821..47808281hg38UCSC Ensembl
Innerchr14:48227024..48277484hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3850461
hg1950461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv636e212
Supporting Variantsessv9805530, essv9805535, essv9805531
Samples401427CB, 401085LA, 401012TP
Known GenesLINC00648, MIR548Y
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)esv3581187
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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