A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161251



Internal ID7905965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82000723..82134059hg38UCSC Ensembl
Innerchr15:82293064..82426400hg19UCSC Ensembl
Innerchr15:80080119..80213455hg18UCSC Ensembl
Innerchr15:80080119..80213455hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38133337
hg19133337
hg18133337
hg17133337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422504
Supporting Variants
SamplesND04302
Known GenesEFTUD1, MEX3B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161251
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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