A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986168



Internal ID12627039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41813946..42602546hg38UCSC Ensembl
Innerchr20:40442586..41231186hg19UCSC Ensembl
Innerchr20:39876000..40664600hg18UCSC Ensembl
Innerchr20:39876000..40664600hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38788601
hg19788601
hg18788601
hg17788601
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986168
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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