A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16197594



Internal ID6199411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48228146..48389193hg38UCSC Ensembl
Innerchr20:48228296..48389043hg38UCSC Ensembl
Outerchr20:48227996..48389343hg38UCSC Ensembl
chr20:46856889..47017936hg19UCSC Ensembl
Innerchr20:46857039..47017786hg19UCSC Ensembl
Outerchr20:46856739..47018086hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38161048
hg19161048
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645990
Supporting Variants
SamplesHG02614
Known GenesLINC00494
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16197594
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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