A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11472n54



Internal ID20144896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76516684..76520144hg38UCSC Ensembl
chr7:76146001..76149461hg19UCSC Ensembl
chr7:75983937..75987397hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383461
hg193461
hg183461
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607612, nsv607609
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11472n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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