A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534143



Internal ID5745283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80384541..80386551hg38UCSC Ensembl
Innerchr16:80384579..80386514hg38UCSC Ensembl
Outerchr16:80384504..80386589hg38UCSC Ensembl
chr16:80418438..80420448hg19UCSC Ensembl
Innerchr16:80418476..80420411hg19UCSC Ensembl
Outerchr16:80418401..80420486hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639269
Supporting Variants
SamplesNA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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