A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5699137



Internal ID8676540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25263161..25520208hg38UCSC Ensembl
chr22:25659128..25916175hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38257048
hg19257048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672394
Supporting Variants
SamplesNA20771
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5699137
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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