A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4545e59



Internal ID20131294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882679..137891477hg38UCSC Ensembl
chr9:140777131..140785929hg19UCSC Ensembl
chr9:139896952..139905750hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388799
hg198799
hg188799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3362183, esv3369287, esv3412592, esv3378562
SamplesNA12891, NA19239, NA12878, NA19240
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4545e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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