A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11541n54



Internal ID20144965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102473462..102646638hg38UCSC Ensembl
chr7:102113909..102287085hg19UCSC Ensembl
chr7:101900914..102074321hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38173177
hg19173177
hg18173408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608008, nsv608012, nsv608004, nsv608006, nsv608007, nsv608014, nsv608015
Samples
Known GenesPOLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11541n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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