A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548027



Internal ID18749103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77451592..77451897hg38UCSC Ensembl
Outerchr11:77451559..77451944hg38UCSC Ensembl
Innerchr11:77162637..77162942hg19UCSC Ensembl
Outerchr11:77162604..77162989hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746774
Samples
Known GenesPAK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548027
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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