A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13216456



Internal ID2178923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67733768..67799766hg38UCSC Ensembl
chr8:68646003..68712001hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3865999
hg1965999
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617513
Supporting Variants
SamplesHG01968
Known GenesCPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13216456
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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