A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2885n54



Internal ID20136309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113827022..113830839hg38UCSC Ensembl
chr12:114264827..114268644hg19UCSC Ensembl
chr12:112749210..112753027hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383818
hg193818
hg183818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560275, nsv560276
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2885n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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