A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1841n100



Internal ID22787928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23960089..24031424hg38UCSC Ensembl
chr14:24429298..24500633hg19UCSC Ensembl
chr14:23499138..23570473hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871336
hg1971336
hg1871336
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044152, nsv1043191
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)dgv1841n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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