A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214287



Internal ID644793
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617475
Supporting Variants
SamplesHG00282
Known GenesDNAJC5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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