A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e199



Internal ID20123314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10035878..10043767hg38UCSC Ensembl
chr1:10095936..10103825hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387890
hg197890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663179, esv2671667
SamplesHG00139, NA11892
Known GenesUBE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv12e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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