A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35097



Internal ID12991133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8122220..8588963hg38UCSC Ensembl
Innerchr20:8102867..8569610hg19UCSC Ensembl
Innerchr20:8050867..8517610hg18UCSC Ensembl
Innerchr20:8050867..8517610hg17UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38466744
hg19466744
hg18466744
hg17466744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986763, essv6978999, essv6990313, essv6986762, essv6979000
SamplesNA12814
Known GenesPLCB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35097
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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