A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986437



Internal ID12629629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133377066..133562190hg38UCSC Ensembl
Innerchr10:135190570..135375694hg19UCSC Ensembl
Innerchr10:135040560..135225684hg18UCSC Ensembl
Innerchr10:135079451..135264575hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38185125
hg19185125
hg18185125
hg17185125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750865
Supporting Variants
SamplesBEC_656
Known GenesCYP2E1, MTG1, PAOX, SCART1, SPRN, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986437
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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