A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808548



Internal ID13643039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121329094..121329338hg38UCSC Ensembl
Innerchr11:121329093..121329339hg38UCSC Ensembl
Outerchr11:121328984..121329458hg38UCSC Ensembl
chr11:121199803..121200047hg19UCSC Ensembl
Innerchr11:121199802..121200048hg19UCSC Ensembl
Outerchr11:121199693..121200167hg19UCSC Ensembl
chr11:120705013..120705257hg18UCSC Ensembl
Innerchr11:120705258..120705012hg18UCSC Ensembl
Outerchr11:120704903..120705377hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428864
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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