A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13177166



Internal ID1399766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40311214..40312328hg38UCSC Ensembl
Innerchr8:40311254..40312289hg38UCSC Ensembl
Outerchr8:40311175..40312368hg38UCSC Ensembl
chr8:40168733..40169847hg19UCSC Ensembl
Innerchr8:40168773..40169808hg19UCSC Ensembl
Outerchr8:40168694..40169887hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616968
Supporting Variants
SamplesHG01269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13177166
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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