A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600517



Internal ID6987559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53173493..53208358hg38UCSC Ensembl
chr4:54039660..54074525hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3834866
hg1934866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11434678
SamplesHG01847
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600517
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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