A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617475



Internal ID7004360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66077958..66099310hg38UCSC Ensembl
Innerchr8:66077995..66099274hg38UCSC Ensembl
Outerchr8:66077922..66099347hg38UCSC Ensembl
chr8:66990193..67011545hg19UCSC Ensembl
Innerchr8:66990230..67011509hg19UCSC Ensembl
Outerchr8:66990157..67011582hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3821353
hg1921353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13214288, essv13214287
SamplesHG00334, HG00282
Known GenesDNAJC5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617475
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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