A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601959



Internal ID6988994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119060737..119205365hg38UCSC Ensembl
chr4:119981892..120126520hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38144629
hg19144629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11583484
SamplesHG03521
Known GenesMYOZ2, SYNPO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601959
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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