A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267707



Internal ID1094298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100385642..100387158hg38UCSC Ensembl
Innerchr8:100385669..100387131hg38UCSC Ensembl
Outerchr8:100385615..100387185hg38UCSC Ensembl
chr8:101397870..101399386hg19UCSC Ensembl
Innerchr8:101397897..101399359hg19UCSC Ensembl
Outerchr8:101397843..101399413hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618188
Supporting Variants
SamplesHG00729
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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