A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1914n100



Internal ID22788001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47754828..47817385hg38UCSC Ensembl
chr14:48224031..48286588hg19UCSC Ensembl
chr14:47293781..47356338hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3862558
hg1962558
hg1862558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038383, nsv1041310, nsv1039981, nsv1041829, nsv1054615, nsv1047157, nsv1052460, nsv1047605
Samples
Known GenesLINC00648, MIR548Y
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1914n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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