A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1917n100



Internal ID22788004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48278315..48391504hg38UCSC Ensembl
chr14:48747518..48860707hg19UCSC Ensembl
chr14:47817268..47930457hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38113190
hg19113190
hg18113190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047027, nsv1048623
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)dgv1917n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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