A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153246



Internal ID3614227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28591517..28596200hg38UCSC Ensembl
Innerchr8:28591531..28596187hg38UCSC Ensembl
Outerchr8:28591504..28596214hg38UCSC Ensembl
chr8:28449034..28453717hg19UCSC Ensembl
Innerchr8:28449048..28453704hg19UCSC Ensembl
Outerchr8:28449021..28453731hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384684
hg194684
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616741
Supporting Variants
SamplesHG03202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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