A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv499n100



Internal ID22786586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193238382..193271250hg38UCSC Ensembl
chr1:193207512..193240380hg19UCSC Ensembl
chr1:191474135..191507003hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3832869
hg1932869
hg1832869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002564, nsv1007444
Samples
Known GenesCDC73
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv499n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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