A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260087



Internal ID1571443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93200202..93211129hg38UCSC Ensembl
Innerchr8:93200202..93211129hg38UCSC Ensembl
Outerchr8:93199702..93211629hg38UCSC Ensembl
chr8:94212431..94223358hg19UCSC Ensembl
Innerchr8:94212431..94223358hg19UCSC Ensembl
Outerchr8:94211931..94223858hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3810928
hg1910928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618050
Supporting Variants
SamplesHG01456
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260087
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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