A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3907e59



Internal ID20130656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102662269..102671667hg38UCSC Ensembl
chr7:102302716..102312114hg19UCSC Ensembl
chr7:102089952..102099350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389399
hg199399
hg189399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3383354, esv3328415, esv3446961, esv3331565
SamplesNA12892, NA19238, NA12891, NA12878
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3907e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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