A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1746n100



Internal ID20153362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114183839..114342910hg38UCSC Ensembl
chr13:114949314..115108385hg19UCSC Ensembl
chr13:113967416..114126487hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38159072
hg19159072
hg18159072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044840, nsv1037242, nsv1044950, nsv1047052, nsv1042572, nsv1037919, nsv1045050, nsv1050854, nsv1037828, nsv1046517, nsv1048925, nsv1039915
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1746n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer