A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267217



Internal ID3032000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97603164..97619043hg38UCSC Ensembl
chr8:98615392..98631271hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3815880
hg1915880
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618140
Supporting Variants
SamplesHG02667
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267217
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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