A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980071



Internal ID12634517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133562190hg38UCSC Ensembl
Innerchr10:135269955..135375694hg19UCSC Ensembl
Innerchr10:135119945..135225684hg18UCSC Ensembl
Innerchr10:135158836..135264575hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38105740
hg19105740
hg18105740
hg17105740
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34442
Supporting Variants
SamplesNA18948
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980071
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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