A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791879



Internal ID19173544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47385788..47427666hg38UCSC Ensembl
Innerchr14:47854991..47896869hg19UCSC Ensembl
Innerchr14:46924741..46966619hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3841879
hg1941879
hg1841879
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892538
Supporting Variants
Samples
Known GenesMDGA2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791879
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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