A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267317



Internal ID2491351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98067654..98069396hg38UCSC Ensembl
Innerchr8:98067654..98069396hg38UCSC Ensembl
Outerchr8:98067369..98069699hg38UCSC Ensembl
chr8:99079882..99081624hg19UCSC Ensembl
Innerchr8:99079882..99081624hg19UCSC Ensembl
Outerchr8:99079597..99081927hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618145
Supporting Variants
SamplesHG02190
Known GenesC8orf47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267317
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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