A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13215943



Internal ID4357929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66618357..66624550hg38UCSC Ensembl
Innerchr8:66618857..66624050hg38UCSC Ensembl
Outerchr8:66617357..66625550hg38UCSC Ensembl
chr8:67530592..67536785hg19UCSC Ensembl
Innerchr8:67531092..67536285hg19UCSC Ensembl
Outerchr8:67529592..67537785hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg386194
hg196194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617489
Supporting Variants
SamplesHG03894
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13215943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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