A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616993



Internal ID6657189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41775309..41776499hg38UCSC Ensembl
Innerchr8:41775359..41776308hg38UCSC Ensembl
Outerchr8:41775241..41776567hg38UCSC Ensembl
chr8:41632827..41634017hg19UCSC Ensembl
Innerchr8:41632877..41633826hg19UCSC Ensembl
Outerchr8:41632759..41634085hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13182227, essv13182233, essv13182232, essv13182231, essv13182230, essv13182228, essv13182229
SamplesHG03698, HG02789, HG03773, HG03782, HG04239, HG02787, HG03006
Known GenesANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616993
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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