A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1386e212



Internal ID22784313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81545056..81548144hg38UCSC Ensembl
chr3:81594207..81597295hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg383089
hg193089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568862, esv3568861, esv3568863
Samples400984LD, 401966SR, 401831TW, 401879HJ, 401571SD
Known GenesGBE1
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)dgv1386e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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