A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1840n100



Internal ID22787927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23957385..24015250hg38UCSC Ensembl
chr14:24426594..24484459hg19UCSC Ensembl
chr14:23496434..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3857866
hg1957866
hg1857866
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039452, nsv1047997
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)dgv1840n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss17
Observed Complex0
Frequencyn/a


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