A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1010e212



Internal ID22783937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78900408..78911012hg38UCSC Ensembl
chr18:76660408..76671012hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3810605
hg1910605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583189, esv3583186, esv3583190
Samples401465TB, 400866RR, 400914ER, 401369GR
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)dgv1010e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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