A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142738



Internal ID1424962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11689049..11695290hg38UCSC Ensembl
Innerchr20:11689074..11695266hg38UCSC Ensembl
Outerchr20:11689025..11695315hg38UCSC Ensembl
chr20:11669697..11675938hg19UCSC Ensembl
Innerchr20:11669722..11675914hg19UCSC Ensembl
Outerchr20:11669673..11675963hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg386242
hg196242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645226
Supporting Variants
SamplesHG01303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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