A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653060



Internal ID14682964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58841781..58841781hg38UCSC Ensembl
Innerchr11:58841780..58841782hg38UCSC Ensembl
Outerchr11:58841731..58841831hg38UCSC Ensembl
chr11:58609254..58609254hg19UCSC Ensembl
Innerchr11:58609253..58609255hg19UCSC Ensembl
Outerchr11:58609204..58609304hg19UCSC Ensembl
chr11:58365830..58365830hg18UCSC Ensembl
Innerchr11:58365831..58365829hg18UCSC Ensembl
Outerchr11:58365780..58365880hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38680
hg19680
hg18680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338733
Supporting Variants
SamplesNA19238
Known GenesGLYATL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653060
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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