A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986167



Internal ID12627040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41794342..42608180hg38UCSC Ensembl
Innerchr20:40422982..41236820hg19UCSC Ensembl
Innerchr20:39856396..40670234hg18UCSC Ensembl
Innerchr20:39856396..40670234hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38813839
hg19813839
hg18813839
hg17813839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751913
Supporting Variants
SamplesBEC_44
Known GenesPTPRT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986167
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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