A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161413



Internal ID8252900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:64307401..64485101hg38UCSC Ensembl
Innerchr18:61974636..62152336hg19UCSC Ensembl
Innerchr18:60125616..60303316hg18UCSC Ensembl
Innerchr18:60125616..60303316hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38177701
hg19177701
hg18177701
hg17177701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422190
Supporting Variants
SamplesND04498
Known GenesLOC284294
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161413
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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