A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3906e59



Internal ID20130655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102657969..102662867hg38UCSC Ensembl
chr7:102298416..102303314hg19UCSC Ensembl
chr7:102085652..102090550hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3433090, esv3332211
SamplesNA12891, NA19238
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3906e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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