A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13303756



Internal ID6583680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119148920..119158511hg38UCSC Ensembl
Innerchr8:119148920..119158511hg38UCSC Ensembl
Outerchr8:119148420..119159011hg38UCSC Ensembl
chr8:120161159..120170750hg19UCSC Ensembl
Innerchr8:120161159..120170750hg19UCSC Ensembl
Outerchr8:120160659..120171250hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg389592
hg199592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618593
Supporting Variants
SamplesNA20765
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13303756
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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