A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8077n54



Internal ID22775972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25327333..25528477hg38UCSC Ensembl
chr22:25723300..25924444hg19UCSC Ensembl
chr22:24053300..24254444hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38201145
hg19201145
hg18201145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588848, nsv588835, nsv588836, nsv588849, nsv588847, nsv588850, nsv588840, nsv588845
SamplesHGDP00952, HGDP00671, HGDP00103
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8077n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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