A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534135



Internal ID1787551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80300513..80320445hg38UCSC Ensembl
chr16:80334410..80354342hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3819933
hg1919933
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639262
Supporting Variants
SamplesHG01670
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534135
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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