A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15530920



Internal ID5532736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79709018..79770282hg38UCSC Ensembl
Innerchr16:79709018..79770282hg38UCSC Ensembl
Outerchr16:79708518..79770782hg38UCSC Ensembl
chr16:79742915..79804179hg19UCSC Ensembl
Innerchr16:79742915..79804179hg19UCSC Ensembl
Outerchr16:79742415..79804679hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3861265
hg1961265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639248
Supporting Variants
SamplesHG00634
Known GenesLOC102467146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15530920
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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