A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647953



Internal ID7034692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46418191..46424722hg38UCSC Ensembl
Innerchr22:46418241..46424672hg38UCSC Ensembl
Outerchr22:46418106..46424807hg38UCSC Ensembl
chr22:46814088..46820619hg19UCSC Ensembl
Innerchr22:46814138..46820569hg19UCSC Ensembl
Outerchr22:46814003..46820704hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16445120
SamplesNA20875
Known GenesCELSR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647953
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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