A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1728e212



Internal ID20150184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29868846..29968417hg38UCSC Ensembl
chr6:29836623..29936194hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3899572
hg1999572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576130, esv3576128, esv3576122, esv3576121, esv3576129, esv3576132
Samples401380OL, 402019MC, 400002HK, 400207HN, 401860TJ, 400050RL
Known GenesHCG4B, HLA-A, HLA-H
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)dgv1728e212
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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