A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605150



Internal ID6992178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58130963..58162587hg38UCSC Ensembl
chr5:57426790..57458414hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3831625
hg1931625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11920488
SamplesHG03697
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605150
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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