A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607650



Internal ID6647890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175444786..175617455hg38UCSC Ensembl
chr5:174871789..175044458hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38172670
hg19172670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12137138, essv12137139, essv12137137, essv12137140, essv12137135, essv12137136
SamplesHG01795, HG00315, HG00369, HG00263, NA20765, HG01174
Known GenesSFXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607650
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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