A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789400



Internal ID19172561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52921443..52989885hg38UCSC Ensembl
Innerchr14:53388161..53456603hg19UCSC Ensembl
Innerchr14:52457911..52526353hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3868443
hg1968443
hg1868443
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892546
Supporting Variants
Samples
Known GenesFERMT2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789400
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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