A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14288022



Internal ID4289838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113688847..113692129hg38UCSC Ensembl
Innerchr11:113688997..113691979hg38UCSC Ensembl
Outerchr11:113688697..113692279hg38UCSC Ensembl
chr11:113559569..113562851hg19UCSC Ensembl
Innerchr11:113559719..113562701hg19UCSC Ensembl
Outerchr11:113559419..113563001hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383283
hg193283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627779
Supporting Variants
SamplesHG03687
Known GenesTMPRSS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14288022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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