A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986763



Internal ID12979451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8128067..8587004hg38UCSC Ensembl
Innerchr20:8108714..8567651hg19UCSC Ensembl
Innerchr20:8056714..8515651hg18UCSC Ensembl
Innerchr20:8056714..8515651hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38458938
hg19458938
hg18458938
hg17458938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35097
Supporting Variants
SamplesNA12814
Known GenesPLCB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986763
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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