A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1700e212



Internal ID22784627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:254254..346085hg38UCSC Ensembl
chr6:254254..346085hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3891832
hg1991832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570705, esv3570688, esv3570677, esv3570704
Samples400970VE, 400453LN, 400427SD, 400943DV
Known GenesDUSP22
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)dgv1700e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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