A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320210



Internal ID4322061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134357170..134435562hg38UCSC Ensembl
chr11:134227064..134305456hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3878393
hg1978393
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628170
Supporting Variants
SamplesHG04195
Known GenesB3GAT1, GLB1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320210
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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