A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e196



Internal ID20123201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133189913..133450541hg38UCSC Ensembl
chr10:135003417..135264045hg19UCSC Ensembl
chr10:134853407..135114035hg18UCSC Ensembl
chr10:134892298..135152926hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38260629
hg19260629
hg18260629
hg17260629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422225, esv2422278
SamplesND01887, ND04152
Known GenesADAM8, CALY, ECHS1, FUOM, KNDC1, MIR202, MIR202HG, MIR3944, MTG1, PAOX, PRAP1, SPRN, TUBGCP2, UTF1, VENTX, ZNF511
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv2e196
Frequency
Sample Size181
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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