A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14184928



Internal ID4186744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64317918..64320057hg38UCSC Ensembl
Innerchr11:64317937..64320038hg38UCSC Ensembl
Outerchr11:64317899..64320076hg38UCSC Ensembl
chr11:64085390..64087529hg19UCSC Ensembl
Innerchr11:64085409..64087510hg19UCSC Ensembl
Outerchr11:64085371..64087548hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382140
hg192140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626659
Supporting Variants
SamplesNA18907
Known GenesPRDX5, TRMT112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14184928
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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