A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422513



Internal ID7906610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133266297..133450541hg38UCSC Ensembl
Innerchr10:135079801..135264045hg19UCSC Ensembl
Innerchr10:134929791..135114035hg18UCSC Ensembl
Innerchr10:134968682..135152926hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38184245
hg19184245
hg18184245
hg17184245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3e196
Supporting Variantsessv5161268
SamplesND03664
Known GenesADAM8, CALY, ECHS1, FUOM, MIR3944, MTG1, PAOX, PRAP1, SPRN, TUBGCP2, ZNF511
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422513
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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