A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11000915



Internal ID4603451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46762087..46809669hg38UCSC Ensembl
chr3:46803577..46851159hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3847583
hg1947583
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596069
Supporting Variants
SamplesHG04134
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11000915
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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