A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606051



Internal ID6992988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102492531..102506675hg38UCSC Ensembl
chr5:101828235..101842379hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3814145
hg1914145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002265
SamplesNA20881
Known GenesSLCO6A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606051
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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