A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34302



Internal ID12643655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14889257..14960041hg38UCSC Ensembl
Innerchr20:14869903..14940687hg19UCSC Ensembl
Innerchr20:14817903..14888687hg18UCSC Ensembl
Innerchr20:14817903..14888687hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3870785
hg1970785
hg1870785
hg1770785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989053, essv6978909, essv6978910
SamplesNA12761
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34302
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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