A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29993



Internal ID12608187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63971170..64096739hg38UCSC Ensembl
Innerchr11:63738642..63864211hg19UCSC Ensembl
Innerchr11:63495218..63620787hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38125570
hg19125570
hg18125570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84232
SamplesHuRef
Known GenesCOX8A, MACROD1, OTUB1
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29993
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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