A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13113932



Internal ID2828806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13356392..13476058hg38UCSC Ensembl
chr8:13213901..13333567hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38119667
hg19119667
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616308
Supporting Variants
SamplesHG02494
Known GenesDLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13113932
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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