A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658954



Internal ID9578373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25264819..25521840hg38UCSC Ensembl
Outerchr22:25264785..25521875hg38UCSC Ensembl
Innerchr22:25660786..25917807hg19UCSC Ensembl
Outerchr22:25660752..25917842hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38257091
hg19257091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828e199
Supporting Variantsessv5900677
SamplesHG00158
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658954
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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