A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8475n54



Internal ID22776370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99909978..99910723hg38UCSC Ensembl
chr3:99628822..99629567hg19UCSC Ensembl
chr3:101111512..101112257hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38746
hg19746
hg18746
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591146, nsv591145
Samples
Known GenesCMSS1, FILIP1L, MIR548G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8475n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss293
Observed Complex0
Frequencyn/a


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