A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15534160



Internal ID5535976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80588355..80633154hg38UCSC Ensembl
Innerchr16:80588505..80633004hg38UCSC Ensembl
Outerchr16:80588205..80633304hg38UCSC Ensembl
chr16:80622252..80667051hg19UCSC Ensembl
Innerchr16:80622402..80666901hg19UCSC Ensembl
Outerchr16:80622102..80667201hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3844800
hg1944800
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639277
Supporting Variants
SamplesHG01670
Known GenesCDYL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15534160
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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