A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892546



Internal ID19183366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52921443..52989885hg38UCSC Ensembl
Outerchr14:52921443..52989885hg38UCSC Ensembl
Innerchr14:53388161..53456603hg19UCSC Ensembl
Outerchr14:53388161..53456603hg19UCSC Ensembl
Innerchr14:52457911..52526353hg18UCSC Ensembl
Outerchr14:52457911..52526353hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3868443
hg1968443
hg1868443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789400
Samples
Known GenesFERMT2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892546
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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