A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668239



Internal ID9934344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25287704..25584249hg38UCSC Ensembl
chr22:25683671..25980216hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38296546
hg19296546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828e199
Supporting Variantsessv6131186, essv6415204
SamplesNA19313, HG00525
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668239
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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