A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv305e199



Internal ID20123607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93492450..93524021hg38UCSC Ensembl
chr12:93886226..93917797hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3831572
hg1931572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2672281, esv2667704
SamplesNA19704
Known GenesMRPL42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv305e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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