A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4534n100



Internal ID20156150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23929462..23995743hg38UCSC Ensembl
chr22:24271649..24337937hg19UCSC Ensembl
chr22:22601649..22667937hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3866282
hg1966289
hg1866289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055551, nsv1058843, nsv1065549
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4534n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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