A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981218



Internal ID12626319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463615..133608615hg38UCSC Ensembl
Innerchr10:135277119..135422119hg19UCSC Ensembl
Innerchr10:135127109..135272109hg18UCSC Ensembl
Innerchr10:135166000..135311000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38145001
hg19145001
hg18145001
hg17145001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750879
Supporting Variants
SamplesBEC_366
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981218
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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