A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983989



Internal ID12630823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456615..133558615hg38UCSC Ensembl
Innerchr10:135270119..135372119hg19UCSC Ensembl
Innerchr10:135120109..135222109hg18UCSC Ensembl
Innerchr10:135159000..135261000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38102001
hg19102001
hg18102001
hg17102001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750868
Supporting Variants
SamplesBEC_740
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983989
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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