A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14207811



Internal ID2486092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70255389..70263304hg38UCSC Ensembl
Innerchr11:70255426..70263268hg38UCSC Ensembl
Outerchr11:70255353..70263341hg38UCSC Ensembl
chr11:70101495..70109410hg19UCSC Ensembl
Innerchr11:70101532..70109374hg19UCSC Ensembl
Outerchr11:70101459..70109447hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg387916
hg197916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626765
Supporting Variants
SamplesHG02187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14207811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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