A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981491



Internal ID12625521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456615..133574615hg38UCSC Ensembl
Innerchr10:135270119..135388119hg19UCSC Ensembl
Innerchr10:135120109..135238109hg18UCSC Ensembl
Innerchr10:135159000..135277000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38118001
hg19118001
hg18118001
hg17118001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750853
Supporting Variants
SamplesBEC_280
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981491
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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