A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547328



Internal ID18401718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11854209..11854870hg38UCSC Ensembl
Outerchr11:11854016..11855011hg38UCSC Ensembl
Innerchr11:11875756..11876417hg19UCSC Ensembl
Outerchr11:11875563..11876558hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv52e215
Supporting Variantsessv9746075
Samples
Known GenesUSP47
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547328
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer