A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2883n54



Internal ID22770778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112925887..112929471hg38UCSC Ensembl
chr12:113363692..113367276hg19UCSC Ensembl
chr12:111848075..111851659hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383585
hg193585
hg183585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560261, nsv560262
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2883n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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