A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132510



Internal ID6001839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20343386..20418319hg38UCSC Ensembl
chr8:20200897..20275830hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3874934
hg1974934
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616569
Supporting Variants
SamplesNA19401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132510
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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