A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647999



Internal ID7034738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47813017..47820720hg38UCSC Ensembl
Innerchr22:47813017..47820720hg38UCSC Ensembl
Outerchr22:47812862..47820794hg38UCSC Ensembl
chr22:48208766..48216469hg19UCSC Ensembl
Innerchr22:48208766..48216469hg19UCSC Ensembl
Outerchr22:48208611..48216543hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387704
hg197704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16449607
SamplesHG02811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647999
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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