A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837482



Internal ID15081839
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 StatusS
Merged Variantsesv3309519
Supporting Variants
SamplesNA19240
Known GenesSNX19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837482
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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