A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13293980



Internal ID5760857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114140678..114197848hg38UCSC Ensembl
Innerchr8:114140696..114197830hg38UCSC Ensembl
Outerchr8:114140660..114197866hg38UCSC Ensembl
chr8:115152907..115210077hg19UCSC Ensembl
Innerchr8:115152925..115210059hg19UCSC Ensembl
Outerchr8:115152889..115210095hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3857171
hg1957171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618487
Supporting Variants
SamplesNA19131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13293980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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