A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617911



Internal ID7004795
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13249620, essv13249621
SamplesHG03052, HG03461
Known GenesCPNE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617911
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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