A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986845



Internal ID12633383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2253134..2383744hg38UCSC Ensembl
Innerchr20:2233780..2364390hg19UCSC Ensembl
Innerchr20:2181780..2312390hg18UCSC Ensembl
Innerchr20:2181780..2312390hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38130611
hg19130611
hg18130611
hg17130611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34630
Supporting Variants
SamplesNA18537
Known GenesTGM3, TGM6
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986845
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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