A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601816



Internal ID6988852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113651906..113691534hg38UCSC Ensembl
chr4:114573062..114612690hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3839629
hg1939629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11567481
SamplesHG00654
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601816
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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