A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986803



Internal ID12979740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12246715..12302010hg38UCSC Ensembl
Innerchr20:12227363..12282658hg19UCSC Ensembl
Innerchr20:12175363..12230658hg18UCSC Ensembl
Innerchr20:12175363..12230658hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3855296
hg1955296
hg1855296
hg1755296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34727
Supporting Variants
SamplesNA18501
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986803
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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