A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2444n54



Internal ID20135868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691593..29692497hg38UCSC Ensembl
chr12:29844526..29845430hg19UCSC Ensembl
chr12:29735793..29736697hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38905
hg19905
hg18905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557932, nsv557931, nsv557922, nsv557923
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2444n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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