A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8076n54



Internal ID22775971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25268441..25366043hg38UCSC Ensembl
chr22:25664408..25762010hg19UCSC Ensembl
chr22:23994408..24092010hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3897603
hg1997603
hg1897603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588788, nsv588814
Samples
Known GenesIGLL3P, LRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8076n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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