A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000145



Internal ID7065280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191390410..191390410hg38UCSC Ensembl
chr3:191108199..191108199hg19UCSC Ensembl
chr3:192590893..192590893hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574914
SamplesHuRef
Known GenesCCDC50
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000145
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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