A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8078n54



Internal ID19000254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25327333..25529111hg38UCSC Ensembl
chr22:25723300..25925078hg19UCSC Ensembl
chr22:24053300..24255078hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38201779
hg19201779
hg18201779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588834, nsv588843, nsv588837, nsv588844, nsv588846
SamplesHGDP00203, HGDP01193, HGDP00023
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8078n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer