A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667900



Internal ID9934005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17596386..17597831hg38UCSC Ensembl
chr22:18079152..18080597hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6339848, essv6208545
SamplesNA19338, HG01190
Known GenesATP6V1E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667900
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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