A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983184



Internal ID12628264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463150..133609001hg38UCSC Ensembl
Innerchr10:135276654..135422505hg19UCSC Ensembl
Innerchr10:135126644..135272495hg18UCSC Ensembl
Innerchr10:135165535..135311386hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38145852
hg19145852
hg18145852
hg17145852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750877
Supporting Variants
SamplesBEC_551
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983184
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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