A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647961



Internal ID7034700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46718539..46726926hg38UCSC Ensembl
Innerchr22:46718540..46726926hg38UCSC Ensembl
Outerchr22:46718539..46726927hg38UCSC Ensembl
chr22:47114436..47122823hg19UCSC Ensembl
Innerchr22:47114437..47122823hg19UCSC Ensembl
Outerchr22:47114436..47122824hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388388
hg198388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16445168, essv16445169, essv16445170
SamplesNA19917, NA19908, HG04200
Known GenesCERK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647961
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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