A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599415



Internal ID6639679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2958013..3019896hg38UCSC Ensembl
chr4:2959740..3021623hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3861884
hg1961884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317189, essv11317188
SamplesHG01610, HG00732
Known GenesGRK4, NOP14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599415
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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