A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1752n100



Internal ID20153368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18225635..19637241hg38UCSC Ensembl
chr14:19002112..20105479hg19UCSC Ensembl
chr14:18072112..19175240hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381411607
hg191103368
hg181103129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039262, nsv1053176, nsv1050402
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1752n100
Frequency
Sample Size29084
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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