A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618556



Internal ID7005438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117401399..117406462hg38UCSC Ensembl
Innerchr8:117401402..117406460hg38UCSC Ensembl
Outerchr8:117401397..117406465hg38UCSC Ensembl
chr8:118413638..118418701hg19UCSC Ensembl
Innerchr8:118413641..118418699hg19UCSC Ensembl
Outerchr8:118413636..118418704hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg385064
hg195064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13300951, essv13300952, essv13300948, essv13300953, essv13300946, essv13300947, essv13300949, essv13300950
SamplesHG03690, HG04202, HG03895, NA20846, HG04144, HG04020, HG03711, HG03600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618556
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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