A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547330



Internal ID18401720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11924976..11925078hg38UCSC Ensembl
Outerchr11:11924971..11925085hg38UCSC Ensembl
Innerchr11:11946523..11946625hg19UCSC Ensembl
Outerchr11:11946518..11946632hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746077
Samples
Known GenesUSP47
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547330
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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