A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9746451



Internal ID18720697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47036450..47041674hg38UCSC Ensembl
Outerchr11:47035450..47042949hg38UCSC Ensembl
Innerchr11:47058001..47063225hg19UCSC Ensembl
Outerchr11:47057001..47064500hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3547704
Supporting Variants
Samples
Known GenesC11orf49
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9746451
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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