A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13298255



Internal ID2500778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115210736..115213177hg38UCSC Ensembl
Innerchr8:115210743..115213170hg38UCSC Ensembl
Outerchr8:115210729..115213184hg38UCSC Ensembl
chr8:116222965..116225406hg19UCSC Ensembl
Innerchr8:116222972..116225399hg19UCSC Ensembl
Outerchr8:116222958..116225413hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg382442
hg192442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618517
Supporting Variants
SamplesHG02221
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13298255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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