A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302973



Internal ID2938095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126365411..126381998hg38UCSC Ensembl
chr11:126235306..126251893hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3816588
hg1916588
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628005
Supporting Variants
SamplesHG02595
Known GenesST3GAL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302973
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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