A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288863



Internal ID976169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113298622..113312343hg38UCSC Ensembl
Innerchr8:113298661..113312304hg38UCSC Ensembl
Outerchr8:113298583..113312382hg38UCSC Ensembl
chr8:114310851..114324572hg19UCSC Ensembl
Innerchr8:114310890..114324533hg19UCSC Ensembl
Outerchr8:114310812..114324611hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3813722
hg1913722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618466
Supporting Variants
SamplesHG00607
Known GenesCSMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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