A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16163040



Internal ID2050874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23150030..23158313hg38UCSC Ensembl
Innerchr20:23150030..23158313hg38UCSC Ensembl
Outerchr20:23149831..23158448hg38UCSC Ensembl
chr20:23130667..23138950hg19UCSC Ensembl
Innerchr20:23130667..23138950hg19UCSC Ensembl
Outerchr20:23130468..23139085hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg388284
hg198284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645519
Supporting Variants
SamplesHG01872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16163040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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