A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8015n54



Internal ID22775910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22505806..22897847hg38UCSC Ensembl
chr22:22860129..23240027hg19UCSC Ensembl
chr22:21190129..21570027hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38392042
hg19379899
hg18379899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588471, nsv588473, nsv588510
SamplesHGDP01037, HGDP00925, HGDP01239
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8015n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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