A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4e196



Internal ID20123203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134304439..134744665hg38UCSC Ensembl
chr11:134174333..134614559hg19UCSC Ensembl
chr11:133679543..134119769hg18UCSC Ensembl
chr11:133679543..134119769hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38440227
hg19440227
hg18440227
hg17440227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422337, esv2422259
SamplesND03627, ND02256
Known GenesB3GAT1, GLB1L2, GLB1L3, LOC283177
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv4e196
Frequency
Sample Size181
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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