A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv824e214



Internal ID20122247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19027664..19115544hg38UCSC Ensembl
chr22:19015177..19103057hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3887881
hg1987881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647258, esv3647257
SamplesNA20519, HG00141
Known GenesDGCR11, DGCR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv824e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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