A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161517



Internal ID8252674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43113712..43652151hg38UCSC Ensembl
Innerchr14:43582915..44121354hg19UCSC Ensembl
Innerchr14:42652665..43191104hg18UCSC Ensembl
Innerchr14:42652665..43191104hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38538440
hg19538440
hg18538440
hg17538440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422268
Supporting Variants
SamplesND01525
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161517
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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