A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8480n54



Internal ID20141904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100795637..100803540hg38UCSC Ensembl
chr3:100514481..100522384hg19UCSC Ensembl
chr3:101997171..102005074hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg387904
hg197904
hg187904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591172, nsv591171, nsv591170
Samples
Known GenesABI3BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8480n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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