A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601087



Internal ID6641345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78048388..78062509hg38UCSC Ensembl
chr4:78969542..78983663hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3814122
hg1914122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11509761
SamplesHG03866
Known GenesFRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601087
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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