A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616302



Internal ID7003189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13240901..13283851hg38UCSC Ensembl
chr8:13098410..13141360hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3842951
hg1942951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13113847, essv13113848
SamplesHG02494, HG01776
Known GenesDLC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616302
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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