A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633328



Internal ID6673450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99381483..99395208hg38UCSC Ensembl
chr13:100033737..100047462hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3813726
hg1913726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14873057
SamplesHG02973
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633328
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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