A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11984548



Internal ID4303393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97159431..97206279hg38UCSC Ensembl
chr5:96495135..96541983hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3846849
hg1946849
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605874
Supporting Variants
SamplesHG03861
Known GenesRIOK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11984548
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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