A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13163067



Internal ID2961822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:34228994..34232939hg38UCSC Ensembl
Innerchr8:34228998..34232936hg38UCSC Ensembl
Outerchr8:34228991..34232943hg38UCSC Ensembl
chr8:34086512..34090457hg19UCSC Ensembl
Innerchr8:34086516..34090454hg19UCSC Ensembl
Outerchr8:34086509..34090461hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616850
Supporting Variants
SamplesHG02614
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13163067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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