A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11542n54



Internal ID20144966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102487446..102719268hg38UCSC Ensembl
chr7:102127893..102359715hg19UCSC Ensembl
chr7:101914898..102146951hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38231823
hg19231823
hg18232054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608011, nsv608010, nsv608013, nsv608016, nsv608009
Samples
Known GenesPOLR2J2, 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)dgv11542n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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