A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547919



Internal ID18748995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66635250..66636253hg38UCSC Ensembl
Outerchr11:66635239..66636275hg38UCSC Ensembl
Innerchr11:66402721..66403724hg19UCSC Ensembl
Outerchr11:66402710..66403746hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746666
Samples
Known GenesRBM14-RBM4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547919
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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