A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15480744



Internal ID6279771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54603937..54607136hg38UCSC Ensembl
Innerchr16:54603937..54607136hg38UCSC Ensembl
Outerchr16:54603437..54607636hg38UCSC Ensembl
chr16:54637849..54641048hg19UCSC Ensembl
Innerchr16:54637849..54641048hg19UCSC Ensembl
Outerchr16:54637349..54641548hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638670
Supporting Variants
SamplesNA19795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15480744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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