A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16182081



Internal ID6183919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38918507..38941657hg38UCSC Ensembl
chr20:37547150..37570300hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3823151
hg1923151
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645792
Supporting Variants
SamplesHG01816
Known GenesFAM83D, PPP1R16B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16182081
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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