A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1637n100



Internal ID20153253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42834264..43351384hg38UCSC Ensembl
chr13:43408400..43925520hg19UCSC Ensembl
chr13:42306400..42823520hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38517121
hg19517121
hg18517121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049071, nsv1048787
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1637n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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