A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8953476



Internal ID14457873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70203999..70204052hg38UCSC Ensembl
Innerchr11:70204011..70204040hg38UCSC Ensembl
Outerchr11:70203958..70204093hg38UCSC Ensembl
chr11:70050105..70050158hg19UCSC Ensembl
Innerchr11:70050117..70050146hg19UCSC Ensembl
Outerchr11:70050064..70050199hg19UCSC Ensembl
chr11:69727753..69727806hg18UCSC Ensembl
Innerchr11:69727794..69727765hg18UCSC Ensembl
Outerchr11:69727712..69727847hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366497
Supporting Variants
SamplesNA19093
Known GenesFADD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8953476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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