A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132381



Internal ID3134197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19911549..20084901hg38UCSC Ensembl
chr8:19769060..19942412hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38173353
hg19173353
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616553
Supporting Variants
SamplesHG01668
Known GenesLPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132381
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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