A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602044



Internal ID6989078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123328596..123450285hg38UCSC Ensembl
chr4:124249751..124371440hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38121690
hg19121690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11591458
SamplesNA19007
Known GenesSPRY1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602044
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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