A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv990n100



Internal ID20152606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131345693..131943719hg38UCSC Ensembl
chr10:133143956..133757223hg19UCSC Ensembl
chr10:133033946..133607213hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38598027
hg19613268
hg18573268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051044, nsv1039666, nsv1054082, nsv1036495, nsv1050992, nsv1049770
Samples
Known GenesFLJ46300, PPP2R2D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv990n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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