A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161348



Internal ID7906062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134304439..134721247hg38UCSC Ensembl
Innerchr11:134174333..134591141hg19UCSC Ensembl
Innerchr11:133679543..134096351hg18UCSC Ensembl
Innerchr11:133679543..134096351hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38416809
hg19416809
hg18416809
hg17416809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422337
Supporting Variants
SamplesND02256
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)essv5161348
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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