A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4505n100



Internal ID22790592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22321100..22881053hg38UCSC Ensembl
chr22:22675456..23223233hg19UCSC Ensembl
chr22:21005456..21553233hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38559954
hg19547778
hg18547778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055517, nsv1062343, nsv1059375, nsv1063375, nsv1062922, nsv1058320, nsv1062139, nsv1066349, nsv1065942, nsv1056723, nsv1058297, nsv1059624
Samples
Known GenesBMS1P20, GGTLC2, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4505n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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