A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618159



Internal ID7005042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99001902..99034880hg38UCSC Ensembl
Innerchr8:99002052..99034730hg38UCSC Ensembl
Outerchr8:99001752..99035030hg38UCSC Ensembl
chr8:100014130..100047108hg19UCSC Ensembl
Innerchr8:100014280..100046958hg19UCSC Ensembl
Outerchr8:100013980..100047258hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3832979
hg1932979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13267420
SamplesHG00122
Known GenesVPS13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618159
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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