A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984205



Internal ID12631175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133377066..133560264hg38UCSC Ensembl
Innerchr10:135190570..135373768hg19UCSC Ensembl
Innerchr10:135040560..135223758hg18UCSC Ensembl
Innerchr10:135079451..135262649hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38183199
hg19183199
hg18183199
hg17183199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750863
Supporting Variants
SamplesBEC_806
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)essv6984205
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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