A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1639n100



Internal ID20153255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42855596..43174747hg38UCSC Ensembl
chr13:43429732..43748883hg19UCSC Ensembl
chr13:42327732..42646883hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38319152
hg19319152
hg18319152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044681, nsv1052603
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1639n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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