A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14113205



Internal ID4115021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43457778..43463836hg38UCSC Ensembl
Innerchr11:43457778..43463836hg38UCSC Ensembl
Outerchr11:43457566..43464087hg38UCSC Ensembl
chr11:43479328..43485386hg19UCSC Ensembl
Innerchr11:43479328..43485386hg19UCSC Ensembl
Outerchr11:43479116..43485637hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626145
Supporting Variants
SamplesNA19471
Known GenesTTC17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14113205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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