A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3427n100



Internal ID19013795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11149372..11237111hg38UCSC Ensembl
chr19:11260048..11347787hg19UCSC Ensembl
chr19:11121048..11208787hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3887740
hg1987740
hg1887740
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059304, nsv1060952, nsv1061799, nsv1060172, nsv1057712
Samples
Known GenesDOCK6, KANK2, SPC24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3427n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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