A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13185987



Internal ID2005827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42807190..42817591hg38UCSC Ensembl
Innerchr8:42807190..42817591hg38UCSC Ensembl
Outerchr8:42806690..42818091hg38UCSC Ensembl
chr8:42662333..42672734hg19UCSC Ensembl
Innerchr8:42662333..42672734hg19UCSC Ensembl
Outerchr8:42661833..42673234hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3810402
hg1910402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617022
Supporting Variants
SamplesHG01853
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13185987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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