A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13249620



Internal ID3405129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86525058..86528181hg38UCSC Ensembl
Innerchr8:86525108..86528131hg38UCSC Ensembl
Outerchr8:86524991..86528248hg38UCSC Ensembl
chr8:87537286..87540409hg19UCSC Ensembl
Innerchr8:87537336..87540359hg19UCSC Ensembl
Outerchr8:87537219..87540476hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383124
hg193124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617911
Supporting Variants
SamplesHG03052
Known GenesCPNE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13249620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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