A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449665



Internal ID6971684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48311146..48314714hg38UCSC Ensembl
Innerchr22:48311147..48314713hg38UCSC Ensembl
Outerchr22:48311145..48314715hg38UCSC Ensembl
chr22:48706958..48710526hg19UCSC Ensembl
Innerchr22:48706959..48710525hg19UCSC Ensembl
Outerchr22:48706957..48710527hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg383569
hg193569
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648009
Supporting Variants
SamplesNA21144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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