A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647963



Internal ID7034702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46822421..46830023hg38UCSC Ensembl
Innerchr22:46822472..46829973hg38UCSC Ensembl
Outerchr22:46822371..46830074hg38UCSC Ensembl
chr22:47218318..47225920hg19UCSC Ensembl
Innerchr22:47218369..47225870hg19UCSC Ensembl
Outerchr22:47218268..47225971hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387603
hg197603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16445172
SamplesHG02017
Known GenesTBC1D22A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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