A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13277187



Internal ID818920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:106428187..106433044hg38UCSC Ensembl
Innerchr8:106428189..106433043hg38UCSC Ensembl
Outerchr8:106428186..106433046hg38UCSC Ensembl
chr8:107440415..107445272hg19UCSC Ensembl
Innerchr8:107440417..107445271hg19UCSC Ensembl
Outerchr8:107440414..107445274hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg384858
hg194858
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618306
Supporting Variants
SamplesHG00406
Known GenesOXR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13277187
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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