A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986227



Internal ID12628645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463150..133593219hg38UCSC Ensembl
Innerchr10:135276654..135406723hg19UCSC Ensembl
Innerchr10:135126644..135256713hg18UCSC Ensembl
Innerchr10:135165535..135295604hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38130070
hg19130070
hg18130070
hg17130070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34260
Supporting Variants
SamplesBEC_576
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986227
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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