A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107119



Internal ID5571791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57161974..57178123hg38UCSC Ensembl
chr19:57673342..57689491hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3816150
hg1916150
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644895
Supporting Variants
SamplesNA19019
Known GenesDUXA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107119
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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