A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3894e59



Internal ID20130643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102480200..102690967hg38UCSC Ensembl
chr7:102120647..102331414hg19UCSC Ensembl
chr7:101907652..102118650hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38210768
hg19210768
hg18210999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3335356, esv3439752
SamplesNA19239, NA19240
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3894e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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