A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11470n54



Internal ID20144894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76516684..76519719hg38UCSC Ensembl
chr7:76146001..76149036hg19UCSC Ensembl
chr7:75983937..75986972hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383036
hg193036
hg183036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607610, nsv607607
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11470n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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