A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4478n100



Internal ID20156094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19513309..19553630hg38UCSC Ensembl
chr22:19500832..19541153hg19UCSC Ensembl
chr22:17880832..17921153hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3840322
hg1940322
hg1840322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055737, nsv1055146
Samples
Known GenesCDC45, CLDN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4478n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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