A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627859



Internal ID7014684
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14292741
SamplesHG04100
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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