A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2457n54



Internal ID22770352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30323255..30327693hg38UCSC Ensembl
chr12:30476188..30480626hg19UCSC Ensembl
chr12:30367455..30371893hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384439
hg194439
hg184439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558006, nsv558005
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2457n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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