A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672031



Internal ID9938136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32234881..32235746hg38UCSC Ensembl
chr22:32630868..32631733hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5687575, essv5466110, essv6542929
SamplesNA19703, NA19909, NA19466
Known GenesSLC5A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672031
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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