A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13209781



Internal ID3256878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60096735..60116972hg38UCSC Ensembl
Innerchr8:60096745..60116962hg38UCSC Ensembl
Outerchr8:60096725..60116982hg38UCSC Ensembl
chr8:61009294..61029531hg19UCSC Ensembl
Innerchr8:61009304..61029521hg19UCSC Ensembl
Outerchr8:61009284..61029541hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3820238
hg1920238
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617369
Supporting Variants
SamplesHG02879
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13209781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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