A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1842n100



Internal ID22787929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23975608..24020217hg38UCSC Ensembl
chr14:24444817..24489426hg19UCSC Ensembl
chr14:23514657..23559266hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3844610
hg1944610
hg1844610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045744, nsv1041819, nsv1041834, nsv1036717, nsv1049308, nsv1051841, nsv1050634, nsv1050036, nsv1039592, nsv1035333, nsv1052637, nsv1047697, nsv1036269
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1842n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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