A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606077



Internal ID6646320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103549971..103712728hg38UCSC Ensembl
chr5:102885672..103048429hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38162758
hg19162758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002391
SamplesNA19025
Known GenesNUDT12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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