A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986360



Internal ID12628265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133456451..133615791hg38UCSC Ensembl
Innerchr10:135269955..135429295hg19UCSC Ensembl
Innerchr10:135119945..135279285hg18UCSC Ensembl
Innerchr10:135158836..135318176hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38159341
hg19159341
hg18159341
hg17159341
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)essv6986360
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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