A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648009



Internal ID7034748
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16449665, essv16449663, essv16449664
SamplesNA21119, NA21144, NA21126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648009
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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