A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647537



Internal ID7034278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29496169..29499713hg38UCSC Ensembl
Innerchr22:29496169..29499713hg38UCSC Ensembl
Outerchr22:29495937..29499978hg38UCSC Ensembl
chr22:29892158..29895702hg19UCSC Ensembl
Innerchr22:29892158..29895702hg19UCSC Ensembl
Outerchr22:29891926..29895967hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383545
hg193545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401109
SamplesHG00143
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647537
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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