A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132507



Internal ID3037457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20335411..20363280hg38UCSC Ensembl
Innerchr8:20335442..20363250hg38UCSC Ensembl
Outerchr8:20335381..20363311hg38UCSC Ensembl
chr8:20192922..20220791hg19UCSC Ensembl
Innerchr8:20192953..20220761hg19UCSC Ensembl
Outerchr8:20192892..20220822hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3827870
hg1927870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616567
Supporting Variants
SamplesHG02676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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