A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303036



Internal ID14803298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118947893..118948045hg38UCSC Ensembl
Innerchr11:118947969..118947969hg38UCSC Ensembl
Outerchr11:118947793..118948145hg38UCSC Ensembl
chr11:118818603..118818755hg19UCSC Ensembl
Innerchr11:118818679..118818679hg19UCSC Ensembl
Outerchr11:118818503..118818855hg19UCSC Ensembl
chr11:118323813..118323965hg18UCSC Ensembl
Innerchr11:118323889..118323889hg18UCSC Ensembl
Outerchr11:118323713..118324065hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv709e59
Supporting Variantsessv7735812, essv7735942, essv7733106, essv7739197, essv7734799, essv7737762, essv7738930, essv7737194, essv7737933, essv7732908, essv7733160, essv7734721, essv7733754, essv7734462, essv7733275, essv7732417, essv7732855, essv7733331, essv7738607, essv7733723, essv7736739, essv7734610, essv7738743, essv7738144, essv7738351, essv7737643
SamplesNA11995, NA18563, NA18944, NA12891, NA18571, NA18949, NA12156, NA12828, NA18973, NA18951, NA18579, NA18572, NA18948, NA18532, NA12144, NA18945, NA12043, NA18608, NA18542, NA11881, NA18961, NA18564, NA18501, NA19102, NA19129, NA12006
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303036
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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