A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14322758



Internal ID1307568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134478009..134851950hg38UCSC Ensembl
Innerchr11:134478159..134851800hg38UCSC Ensembl
Outerchr11:134477859..134852100hg38UCSC Ensembl
chr11:134347903..134721844hg19UCSC Ensembl
Innerchr11:134348053..134721694hg19UCSC Ensembl
Outerchr11:134347753..134721994hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38373942
hg19373942
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628176
Supporting Variants
SamplesHG01142
Known GenesLOC283177
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14322758
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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