A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547258



Internal ID18748334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5699241..5699566hg38UCSC Ensembl
Outerchr11:5699189..5699611hg38UCSC Ensembl
Innerchr11:5720471..5720796hg19UCSC Ensembl
Outerchr11:5720419..5720841hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49e215
Supporting Variantsessv9746005
Samples
Known GenesTRIM22
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547258
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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