A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677792



Internal ID14754514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60788726..60788745hg38UCSC Ensembl
Innerchr11:60788722..60788749hg38UCSC Ensembl
Outerchr11:60788703..60788768hg38UCSC Ensembl
chr11:60556199..60556218hg19UCSC Ensembl
Innerchr11:60556195..60556222hg19UCSC Ensembl
Outerchr11:60556176..60556241hg19UCSC Ensembl
chr11:60312775..60312794hg18UCSC Ensembl
Innerchr11:60312798..60312771hg18UCSC Ensembl
Outerchr11:60312752..60312817hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366730
Supporting Variants
SamplesNA19240
Known GenesMS4A10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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