A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548428



Internal ID18402818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120516939..120517616hg38UCSC Ensembl
Outerchr11:120516826..120517746hg38UCSC Ensembl
Innerchr11:120387648..120388325hg19UCSC Ensembl
Outerchr11:120387535..120388455hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747175
Samples
Known GenesGRIK4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548428
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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