A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14222440



Internal ID693750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86589042..86590794hg38UCSC Ensembl
Innerchr11:86589042..86590794hg38UCSC Ensembl
Outerchr11:86588880..86590929hg38UCSC Ensembl
chr11:86300084..86301836hg19UCSC Ensembl
Innerchr11:86300084..86301836hg19UCSC Ensembl
Outerchr11:86299922..86301971hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627093
Supporting Variants
SamplesHG00326
Known GenesME3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14222440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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