A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15530491



Internal ID2790450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79007601..79048368hg38UCSC Ensembl
Innerchr16:79007632..79048337hg38UCSC Ensembl
Outerchr16:79007570..79048399hg38UCSC Ensembl
chr16:79041498..79082265hg19UCSC Ensembl
Innerchr16:79041529..79082234hg19UCSC Ensembl
Outerchr16:79041467..79082296hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3840768
hg1940768
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639236
Supporting Variants
SamplesHG02464
Known GenesWWOX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15530491
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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