A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv828e199



Internal ID18982882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25263161..25592625hg38UCSC Ensembl
chr22:25659128..25988592hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38329465
hg19329465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668239, esv2662560, esv2672394, esv2658954
SamplesNA18520, NA20771, NA18871, NA18570, NA10847, NA19701, HG00113, HG00158, HG00243, NA19313, NA20760, HG00525, NA11830, NA12717, HG00312
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv828e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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