A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661391



Internal ID9580810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23853079..23857885hg38UCSC Ensembl
Outerchr22:23852708..23858255hg38UCSC Ensembl
Innerchr22:24195266..24200072hg19UCSC Ensembl
Outerchr22:24194895..24200442hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5528881, essv6098564, essv6217910, essv5842880, essv6072432, essv6429098, essv6427265, essv5970766, essv5552187, essv6154791, essv5981748, essv5885186, essv6076833, essv5708685
SamplesNA18534, NA18630, NA18626, NA18632, NA18559, NA18627, NA18635, NA18539, NA18613, NA18606, NA18567, NA18538, NA18602, NA18574
Known GenesSLC2A11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661391
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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