A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731109



Internal ID13700577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122836547..122836616hg38UCSC Ensembl
Innerchr11:122836581..122836582hg38UCSC Ensembl
Outerchr11:122836447..122836716hg38UCSC Ensembl
chr11:122707255..122707324hg19UCSC Ensembl
Innerchr11:122707289..122707290hg19UCSC Ensembl
Outerchr11:122707155..122707424hg19UCSC Ensembl
chr11:122212465..122212534hg18UCSC Ensembl
Innerchr11:122212500..122212499hg18UCSC Ensembl
Outerchr11:122212365..122212634hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302669
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731109
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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