A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547287



Internal ID18748363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:8423013..8425058hg38UCSC Ensembl
Outerchr11:8422992..8425195hg38UCSC Ensembl
Innerchr11:8444560..8446605hg19UCSC Ensembl
Outerchr11:8444539..8446742hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382204
hg192204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746034
Samples
Known GenesSTK33
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547287
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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