A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2928n54



Internal ID20136352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123911384..123912331hg38UCSC Ensembl
chr12:124395931..124396878hg19UCSC Ensembl
chr12:122961884..122962831hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38948
hg19948
hg18948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560526, nsv560523, nsv560511, nsv560506, nsv560530, nsv560518, nsv560516, nsv560505, nsv560512, nsv560522
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2928n54
Frequency
Sample Size17421
Observed Gain144
Observed Loss44
Observed Complex0
Frequencyn/a


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