A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605336



Internal ID6992359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67285115..67306375hg38UCSC Ensembl
chr5:66580943..66602203hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3821261
hg1921261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11936978, essv11936977
SamplesNA20775, NA20758
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605336
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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