A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985230



Internal ID12636315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133377066..133574363hg38UCSC Ensembl
Innerchr10:135190570..135387867hg19UCSC Ensembl
Innerchr10:135040560..135237857hg18UCSC Ensembl
Innerchr10:135079451..135276748hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38197298
hg19197298
hg18197298
hg17197298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750864
Supporting Variants
SamplesSPC_129
Known GenesCYP2E1, MTG1, PAOX, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985230
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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