A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688182



Internal ID14694439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121107333..121109231hg38UCSC Ensembl
Innerchr11:121108231..121108333hg38UCSC Ensembl
Outerchr11:121106333..121110231hg38UCSC Ensembl
chr11:120978042..120979940hg19UCSC Ensembl
Innerchr11:120978940..120979042hg19UCSC Ensembl
Outerchr11:120977042..120980940hg19UCSC Ensembl
chr11:120483252..120485150hg18UCSC Ensembl
Innerchr11:120484252..120484150hg18UCSC Ensembl
Outerchr11:120482252..120486150hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419516
Supporting Variants
SamplesNA19239
Known GenesTECTA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688182
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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