A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8075n54



Internal ID22775970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25258025..25532662hg38UCSC Ensembl
chr22:25653992..25928629hg19UCSC Ensembl
chr22:23983992..24258629hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38274638
hg19274638
hg18274638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588813, nsv588798, nsv588808, nsv588819, nsv588833, nsv588790, nsv588806, nsv588789, nsv588795, nsv588804, nsv588774, nsv588829, nsv588830, nsv588817, nsv588797, nsv588809, nsv588815, nsv588825, nsv588832
SamplesHGDP01417, 1780854235_A, 1798860565_A
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8075n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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