A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978910



Internal ID12632643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14897254..14931554hg38UCSC Ensembl
Innerchr20:14877900..14912200hg19UCSC Ensembl
Innerchr20:14825900..14860200hg18UCSC Ensembl
Innerchr20:14825900..14860200hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3834301
hg1934301
hg1834301
hg1734301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34302
Supporting Variants
SamplesNA12761
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978910
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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