A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548413



Internal ID18402803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118363893..118364799hg38UCSC Ensembl
Outerchr11:118363868..118364869hg38UCSC Ensembl
Innerchr11:118234608..118235514hg19UCSC Ensembl
Outerchr11:118234583..118235584hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747160
Samples
Known GenesUBE4A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548413
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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