A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1839n100



Internal ID22787926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23955849..24025829hg38UCSC Ensembl
chr14:24425058..24495038hg19UCSC Ensembl
chr14:23494898..23564878hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3869981
hg1969981
hg1869981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050491, nsv1046815, nsv1051345, nsv1040468, nsv1042917, nsv1050070, nsv1035469, nsv1042711, nsv1042753
Samples
Known GenesDHRS4, DHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1839n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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