A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2772n54



Internal ID20136196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88103783..88130475hg38UCSC Ensembl
chr12:88497560..88524252hg19UCSC Ensembl
chr12:87021691..87048383hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3826693
hg1926693
hg1826693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559702, nsv559703
Samples
Known GenesCEP290
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2772n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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