A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987440



Internal ID12629372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133463615..133558615hg38UCSC Ensembl
Innerchr10:135277119..135372119hg19UCSC Ensembl
Innerchr10:135127109..135222109hg18UCSC Ensembl
Innerchr10:135166000..135261000hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3895001
hg1995001
hg1895001
hg1795001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750859
Supporting Variants
SamplesBEC_635
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987440
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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