A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603274



Internal ID6643530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176144758..176386481hg38UCSC Ensembl
chr4:177065909..177307632hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38241724
hg19241724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11717810
SamplesNA19731
Known GenesASB5, SPATA4, SPCS3, WDR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603274
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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