A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv255e199



Internal ID20123557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:964375..970165hg38UCSC Ensembl
chr12:1073541..1079331hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385791
hg195791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2672518, esv2660859
SamplesNA19332, NA19818, NA19466
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv255e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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