A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16122363



Internal ID6124179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3978093..3986979hg38UCSC Ensembl
Innerchr20:3978593..3986479hg38UCSC Ensembl
Outerchr20:3977093..3987979hg38UCSC Ensembl
chr20:3958740..3967626hg19UCSC Ensembl
Innerchr20:3959240..3967126hg19UCSC Ensembl
Outerchr20:3957740..3968626hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388887
hg198887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645064
Supporting Variants
SamplesHG02351
Known GenesRNF24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16122363
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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