A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2887n54



Internal ID20136311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113830291..113837437hg38UCSC Ensembl
chr12:114268096..114275242hg19UCSC Ensembl
chr12:112752479..112759625hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg387147
hg197147
hg187147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560282, nsv560280
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2887n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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