A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13269434



Internal ID5306989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101467099..101469483hg38UCSC Ensembl
Innerchr8:101467109..101469473hg38UCSC Ensembl
Outerchr8:101467089..101469493hg38UCSC Ensembl
chr8:102479327..102481711hg19UCSC Ensembl
Innerchr8:102479337..102481701hg19UCSC Ensembl
Outerchr8:102479317..102481721hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382385
hg192385
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618205
Supporting Variants
SamplesNA18856
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13269434
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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