A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982822



Internal ID12628915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51166230..51596714hg38UCSC Ensembl
Innerchr20:49782767..50213253hg19UCSC Ensembl
Innerchr20:49216174..49646660hg18UCSC Ensembl
Innerchr20:49216174..49646660hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38430485
hg19430487
hg18430487
hg17430487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751917
Supporting Variants
SamplesBEC_601
Known GenesMIR3194, NFATC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982822
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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