A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979151



Internal ID12979687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11825973..12302010hg38UCSC Ensembl
Innerchr20:11806621..12282658hg19UCSC Ensembl
Innerchr20:11754621..12230658hg18UCSC Ensembl
Innerchr20:11754621..12230658hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38476038
hg19476038
hg18476038
hg17476038
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)essv6979151
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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