A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14290134



Internal ID5373744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:115788891..115790143hg38UCSC Ensembl
Innerchr11:115788899..115790136hg38UCSC Ensembl
Outerchr11:115788884..115790151hg38UCSC Ensembl
chr11:115659609..115660861hg19UCSC Ensembl
Innerchr11:115659617..115660854hg19UCSC Ensembl
Outerchr11:115659602..115660869hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627815
Supporting Variants
SamplesNA18916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14290134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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