A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv173e55



Internal ID20126652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18157533..19070277hg38UCSC Ensembl
chr22:18640300..19057790hg19UCSC Ensembl
chr22:17020300..17437790hg18UCSC Ensembl
chr22:17014854..17432344hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38912745
hg19417491
hg18417491
hg17417491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751936, esv34520, esv2751937
SamplesBEC_103, SPC_31, NA11829
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv173e55
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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