A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13215935



Internal ID3217751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66580598..66614392hg38UCSC Ensembl
chr8:67492833..67526627hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3833795
hg1933795
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617488
Supporting Variants
SamplesHG01868
Known GenesMYBL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13215935
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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