A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13182331



Internal ID3184147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42060242..42072166hg38UCSC Ensembl
Innerchr8:42060242..42072166hg38UCSC Ensembl
Outerchr8:42059742..42072666hg38UCSC Ensembl
chr8:41917760..41929684hg19UCSC Ensembl
Innerchr8:41917760..41929684hg19UCSC Ensembl
Outerchr8:41917260..41930184hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3811925
hg1911925
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617000
Supporting Variants
SamplesHG03303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13182331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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