A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607674



Internal ID6647914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176753572..176873255hg38UCSC Ensembl
chr5:176180573..176300256hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38119684
hg19119684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12142301
SamplesHG00237
Known GenesUNC5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607674
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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