A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618899



Internal ID7005781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133820523..133823536hg38UCSC Ensembl
Innerchr8:133820523..133823536hg38UCSC Ensembl
Outerchr8:133820352..133823764hg38UCSC Ensembl
chr8:134832766..134835779hg19UCSC Ensembl
Innerchr8:134832766..134835779hg19UCSC Ensembl
Outerchr8:134832595..134836007hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13338128, essv13338130, essv13338127, essv13338131, essv13338132, essv13338129
SamplesHG03589, HG03851, HG03919, HG04093, NA21104, HG03985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618899
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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