A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676362



Internal ID9595781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30288286..30288611hg38UCSC Ensembl
Outerchr22:30288249..30288661hg38UCSC Ensembl
Innerchr22:30684275..30684600hg19UCSC Ensembl
Outerchr22:30684238..30684650hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6486037, essv6478425, essv5605161
SamplesNA18868, NA19238, NA19240
Known GenesGATSL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676362
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer