A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1643n100



Internal ID20153259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43182667..43216777hg38UCSC Ensembl
chr13:43756803..43790913hg19UCSC Ensembl
chr13:42654803..42688913hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3834111
hg1934111
hg1834111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046529, nsv1053820, nsv1043181, nsv1041215
Samples
Known GenesENOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1643n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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