A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8528n54



Internal ID22776423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123448402..123449639hg38UCSC Ensembl
chr3:123167249..123168486hg19UCSC Ensembl
chr3:124649939..124651176hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381238
hg191238
hg181238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591420, nsv591417, nsv591412
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8528n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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