A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13348518



Internal ID3314750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138078519..138122602hg38UCSC Ensembl
chr8:139090762..139134845hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3844084
hg1944084
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618980
Supporting Variants
SamplesHG02953
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13348518
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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