A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302642



Internal ID15149590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73999067..73999146hg38UCSC Ensembl
Innerchr11:73999106..73999106hg38UCSC Ensembl
Outerchr11:73998967..73999246hg38UCSC Ensembl
chr11:73710112..73710191hg19UCSC Ensembl
Innerchr11:73710151..73710151hg19UCSC Ensembl
Outerchr11:73710012..73710291hg19UCSC Ensembl
chr11:73387760..73387839hg18UCSC Ensembl
Innerchr11:73387799..73387799hg18UCSC Ensembl
Outerchr11:73387660..73387939hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731674, essv7730964, essv7731108, essv7731345
SamplesNA12891, NA19238, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302642
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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