A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2445n54



Internal ID20135869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691593..29692713hg38UCSC Ensembl
chr12:29844526..29845646hg19UCSC Ensembl
chr12:29735793..29736913hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557940, nsv557945, nsv557934, nsv557924, nsv557933, nsv557925
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2445n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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