A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1552e212



Internal ID22784479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184838612..184857219hg38UCSC Ensembl
chr4:185759766..185778373hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3818608
hg1918608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569861, esv3569860
Samples401437MJ, 401444LD
Known GenesLOC731424, MIR3945
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)dgv1552e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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