A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5401814



Internal ID8869005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23972427..23992229hg38UCSC Ensembl
Outerchr22:23972056..23992599hg38UCSC Ensembl
Innerchr22:24314616..24334422hg19UCSC Ensembl
Outerchr22:24314245..24334792hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3820544
hg1920548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661400
Supporting Variants
SamplesHG00323
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5401814
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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