A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607542



Internal ID6647782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169279645..169286399hg38UCSC Ensembl
chr5:168706649..168713403hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg386755
hg196755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12127017
SamplesHG03342
Known GenesSLIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607542
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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