A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161475



Internal ID8252959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:7968779..8463601hg38UCSC Ensembl
Innerchr20:7949426..8444248hg19UCSC Ensembl
Innerchr20:7897426..8392248hg18UCSC Ensembl
Innerchr20:7897426..8392248hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38494823
hg19494823
hg18494823
hg17494823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422203
Supporting Variants
SamplesND05461
Known GenesPLCB1, TMX4
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161475
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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