A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1574e212



Internal ID22784501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7576862..7581370hg38UCSC Ensembl
chr5:7576975..7581483hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384509
hg194509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569951, esv3569950
Samples401016IT, 400996MC
Known GenesADCY2
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)dgv1574e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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