A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664227



Internal ID9930332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37694005..37695039hg38UCSC Ensembl
Outerchr22:37693968..37695089hg38UCSC Ensembl
Innerchr22:38090012..38091046hg19UCSC Ensembl
Outerchr22:38089975..38091096hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381122
hg191122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6391556, essv6056208
SamplesNA20813, NA12058
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664227
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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