A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978999



Internal ID12979464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8122220..8588959hg38UCSC Ensembl
Innerchr20:8102867..8569606hg19UCSC Ensembl
Innerchr20:8050867..8517606hg18UCSC Ensembl
Innerchr20:8050867..8517606hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38466740
hg19466740
hg18466740
hg17466740
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978999
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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