A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660991



Internal ID9927096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47190245..47192728hg38UCSC Ensembl
chr22:47585995..47588478hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382484
hg192484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6188804, essv5876613, essv6448886, essv6088760, essv5474366, essv6259501, essv6232877, essv5469568, essv6097115, essv5678953, essv6433593
SamplesNA20752, NA12750, NA12413, NA11831, NA20800, NA20787, NA20542, NA18953, HG00734, NA12046, HG01375
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660991
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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