A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309519



Internal ID15156469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130888730..130888731hg38UCSC Ensembl
Innerchr11:130888702..130888759hg38UCSC Ensembl
Outerchr11:130888701..130888760hg38UCSC Ensembl
chr11:130758625..130758626hg19UCSC Ensembl
Innerchr11:130758597..130758654hg19UCSC Ensembl
Outerchr11:130758596..130758655hg19UCSC Ensembl
chr11:130263835..130263836hg18UCSC Ensembl
Innerchr11:130263864..130263807hg18UCSC Ensembl
Outerchr11:130263806..130263865hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837482, essv7836918
SamplesNA19239, NA19240
Known GenesSNX19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309519
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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