A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979168



Internal ID12979732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11828752..11996752hg38UCSC Ensembl
Innerchr20:11809400..11977400hg19UCSC Ensembl
Innerchr20:11757400..11925400hg18UCSC Ensembl
Innerchr20:11757400..11925400hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38168001
hg19168001
hg18168001
hg17168001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34727
Supporting Variants
SamplesNA18501
Known GenesBTBD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979168
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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