A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238942



Internal ID1722440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80284760..80288599hg38UCSC Ensembl
Innerchr8:80284760..80288599hg38UCSC Ensembl
Outerchr8:80284705..80288640hg38UCSC Ensembl
chr8:81196995..81200834hg19UCSC Ensembl
Innerchr8:81196995..81200834hg19UCSC Ensembl
Outerchr8:81196940..81200875hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg383840
hg193840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617776
Supporting Variants
SamplesHG01599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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