A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292741



Internal ID4590205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117656111..117659552hg38UCSC Ensembl
Innerchr11:117656111..117659552hg38UCSC Ensembl
Outerchr11:117656048..117659620hg38UCSC Ensembl
chr11:117526826..117530267hg19UCSC Ensembl
Innerchr11:117526826..117530267hg19UCSC Ensembl
Outerchr11:117526763..117530335hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383442
hg193442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627859
Supporting Variants
SamplesHG04100
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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