A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605874



Internal ID6992811
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11984549, essv11984548, essv11984550, essv11984547, essv11984551
SamplesHG03861, HG02121, HG04025, HG04023, HG04056
Known GenesRIOK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605874
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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