A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv783e214



Internal ID20122206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46616790..46646972hg38UCSC Ensembl
chr20:45245429..45275611hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3830183
hg1930183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3645957, esv3645956
SamplesNA19917, NA18547
Known GenesSLC13A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv783e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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