A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13294037



Internal ID6672112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114294626..114364108hg38UCSC Ensembl
chr8:115306855..115376337hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3869483
hg1969483
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618493
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13294037
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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