A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791694



Internal ID18833280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18375541..19723710hg38UCSC Ensembl
Innerchr14:19152018..20191869hg19UCSC Ensembl
Innerchr14:18222018..19261709hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381348170
hg191039852
hg181039692
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892461
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=180
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791694
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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