A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979150



Internal ID12979686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11825973..12298890hg38UCSC Ensembl
Innerchr20:11806621..12279538hg19UCSC Ensembl
Innerchr20:11754621..12227538hg18UCSC Ensembl
Innerchr20:11754621..12227538hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38472918
hg19472918
hg18472918
hg17472918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34746
Supporting Variants
SamplesNA18500
Known GenesBTBD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979150
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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