A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161234



Internal ID7905948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134338070..134744665hg38UCSC Ensembl
Innerchr11:134207964..134614559hg19UCSC Ensembl
Innerchr11:133713174..134119769hg18UCSC Ensembl
Innerchr11:133713174..134119769hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38406596
hg19406596
hg18406596
hg17406596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422259
Supporting Variants
SamplesND03627
Known GenesB3GAT1, GLB1L2, LOC283177
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161234
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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