A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302669



Internal ID15149617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122836546..122836616hg38UCSC Ensembl
Innerchr11:122836581..122836581hg38UCSC Ensembl
Outerchr11:122836446..122836716hg38UCSC Ensembl
chr11:122707254..122707324hg19UCSC Ensembl
Innerchr11:122707289..122707289hg19UCSC Ensembl
Outerchr11:122707154..122707424hg19UCSC Ensembl
chr11:122212464..122212534hg18UCSC Ensembl
Innerchr11:122212499..122212499hg18UCSC Ensembl
Outerchr11:122212364..122212634hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731469, essv7731109
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302669
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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