A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1636n100



Internal ID22787723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42796874..42903595hg38UCSC Ensembl
chr13:43371010..43477731hg19UCSC Ensembl
chr13:42269010..42375731hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38106722
hg19106722
hg18106722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043201, nsv1042237
Samples
Known GenesEPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1636n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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