A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982426



Internal ID12627037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41813898..42640681hg38UCSC Ensembl
Innerchr20:40442538..41269321hg19UCSC Ensembl
Innerchr20:39875952..40702735hg18UCSC Ensembl
Innerchr20:39875952..40702735hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38826784
hg19826784
hg18826784
hg17826784
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)essv6982426
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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