A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161381



Internal ID8252943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:942530..1611759hg38UCSC Ensembl
Innerchr3:984214..1653443hg19UCSC Ensembl
Innerchr3:959214..1628443hg18UCSC Ensembl
Innerchr3:959214..1628443hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38669230
hg19669230
hg18669230
hg17669230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422485
Supporting Variants
SamplesND05154
Known GenesCNTN6
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161381
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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