A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791233



Internal ID18826071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18343498..19628664hg38UCSC Ensembl
Innerchr14:19119975..20096940hg19UCSC Ensembl
Innerchr14:18189975..19166663hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381285167
hg19976966
hg18976689
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, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=178
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791233
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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