A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669517



Internal ID9588936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26713493..26715173hg38UCSC Ensembl
chr22:27109456..27111136hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381681
hg191681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6198478, essv5552832, essv6596553, essv5651307, essv6541280, essv5603359, essv6136175, essv6094202
SamplesHG00189, HG00269, HG00180, NA19082, NA19055, HG00329, HG00278, NA18980
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669517
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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