A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1696e212



Internal ID22784623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:253363..386419hg38UCSC Ensembl
chr6:253363..386419hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38133057
hg19133057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576025, esv3576024, esv3576048, esv3575978, esv3575991, esv3576033, esv3576058, esv3575977
Samples400468OB, 400949AM, 401845MJ, 401949MN, 401603HH, 400059SV, 401190WC, 400663MD, 400955BE, 401230NL, 401889FR, 400430KV, 401154BR, 401053MF
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)dgv1696e212
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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