A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688497



Internal ID14735282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67649305..67650203hg38UCSC Ensembl
Innerchr11:67649304..67650204hg38UCSC Ensembl
Outerchr11:67648305..67651203hg38UCSC Ensembl
chr11:67416776..67417674hg19UCSC Ensembl
Innerchr11:67416775..67417675hg19UCSC Ensembl
Outerchr11:67415776..67418674hg19UCSC Ensembl
chr11:67173352..67174250hg18UCSC Ensembl
Innerchr11:67174251..67173351hg18UCSC Ensembl
Outerchr11:67172352..67175250hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334811
Supporting Variants
SamplesNA19240
Known GenesACY3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688497
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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