A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449607



Internal ID3202770
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647999
Supporting Variants
SamplesHG02811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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