A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1647n100



Internal ID20153263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47690483..47753020hg38UCSC Ensembl
chr13:48264618..48327155hg19UCSC Ensembl
chr13:47162619..47225156hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3862538
hg1962538
hg1862538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047818, nsv1052701
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1647n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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