A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv620e199



Internal ID20123922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8310597..8314707hg38UCSC Ensembl
chr19:8375481..8379591hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384111
hg194111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662709, esv2665658
SamplesHG00589, HG00619
Known GenesNDUFA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv620e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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