A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548008



Internal ID18402398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74821383..74821662hg38UCSC Ensembl
Outerchr11:74821335..74821721hg38UCSC Ensembl
Innerchr11:74532428..74532707hg19UCSC Ensembl
Outerchr11:74532380..74532766hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746755
Samples
Known GenesRNF169
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548008
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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