A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv1419e212

Internal ID20149875
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151792302..151831226hg38UCSC Ensembl
chr3:151510090..151549014hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569058, esv3569060, esv3569059, esv3569061
Samples400782IE, 401505WI, 401990PR, 401307VR, 401986LC, 400572PJ, 400508RD, 401725MR, 401384BP, 401420PJ, 400655WB, 400627CC, 401969DR, 401536BD, 400626FC, 400328LM, 401353BC
Known GenesAADAC, MIR548H2
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
Pubmed ID25503493
Accession Number(s)dgv1419e212
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0

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