A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320187



Internal ID4322038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134276952..134344689hg38UCSC Ensembl
chr11:134146846..134214583hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3867738
hg1967738
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628165
Supporting Variants
SamplesNA18533
Known GenesGLB1L2, GLB1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320187
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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