A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288894



Internal ID3882473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113604106..113612091hg38UCSC Ensembl
Innerchr8:113604126..113612072hg38UCSC Ensembl
Outerchr8:113604087..113612111hg38UCSC Ensembl
chr8:114616335..114624320hg19UCSC Ensembl
Innerchr8:114616355..114624301hg19UCSC Ensembl
Outerchr8:114616316..114624340hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg387986
hg197986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618472
Supporting Variants
SamplesHG03521
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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