A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16213331



Internal ID4152254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55930892..55941872hg38UCSC Ensembl
Innerchr20:55930903..55941861hg38UCSC Ensembl
Outerchr20:55930881..55941883hg38UCSC Ensembl
chr20:54505948..54516928hg19UCSC Ensembl
Innerchr20:54505959..54516917hg19UCSC Ensembl
Outerchr20:54505937..54516939hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810981
hg1910981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646177
Supporting Variants
SamplesHG03756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16213331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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