A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792051



Internal ID18813963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18529900..19969990hg38UCSC Ensembl
Innerchr14:19306377..20438149hg19UCSC Ensembl
Innerchr14:18376377..19507989hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381440091
hg191131773
hg181131613
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, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=206
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792051
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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