A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979152



Internal ID12979688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12266352..12298852hg38UCSC Ensembl
Innerchr20:12247000..12279500hg19UCSC Ensembl
Innerchr20:12195000..12227500hg18UCSC Ensembl
Innerchr20:12195000..12227500hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3832501
hg1932501
hg1832501
hg1732501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34746
Supporting Variants
SamplesNA18500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979152
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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