A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981490



Internal ID12972213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133266358..133574363hg38UCSC Ensembl
Innerchr10:135079862..135387867hg19UCSC Ensembl
Innerchr10:134929852..135237857hg18UCSC Ensembl
Innerchr10:134968743..135276748hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38308006
hg19308006
hg18308006
hg17308006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750853
Supporting Variants
SamplesBEC_280
Known GenesADAM8, CALY, CYP2E1, ECHS1, FUOM, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981490
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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