A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1853e212



Internal ID22784780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167931553..168216832hg38UCSC Ensembl
chr6:168332233..168617512hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38285280
hg19285280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576254, esv3576262, esv3576271, esv3576260, esv3576264, esv3576257, esv3576258, esv3576255, esv3576270, esv3576266, esv3576259, esv3576265, esv3576263, esv3576268, esv3576256, esv3576267, esv3576269
Samples401033DJ, 401074CM, 400906BR, 400140WM, 400083TG, 401403TD, 401434VN, 401674DD, 401368WR, 400155CW, 401281BP, 400482MD, 401838EN, 402061PI, 401994BD, 401591BE, 401084TD, 400977SC, 400375KA, 400888MS, 401514BA, 401361GG, 401958MF, 401611CD, 400315DA, 400835FD, 401395OP
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)dgv1853e212
Frequency
Sample Size873
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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