A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5533891



Internal ID8511294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25296111..25592625hg38UCSC Ensembl
chr22:25692078..25988592hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38296515
hg19296515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662560
Supporting Variants
SamplesNA12717
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5533891
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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