A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310453



Internal ID14810718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106968777..106968777hg38UCSC Ensembl
Outerchr11:106968777..106968777hg38UCSC Ensembl
Innerchr11:106839503..106839503hg19UCSC Ensembl
Outerchr11:106839503..106839503hg19UCSC Ensembl
Innerchr11:106344713..106344713hg18UCSC Ensembl
Outerchr11:106344713..106344713hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843468
SamplesNA12878
Known GenesGUCY1A2
MethodSequencing
AnalysisCortex reference assisted and de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310453
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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