A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570667



Internal ID18698865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:257049..294316hg38UCSC Ensembl
Innerchr6:257049..294316hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3837268
hg1937268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1693e212
Supporting Variantsessv9777594, essv9777595
Samples401415CB, 401321CE
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)esv3570667
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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