A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675700



Internal ID4720034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33787060..33787974hg19UCSC Ensembl
Outerchr22:33787023..33788024hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6165280
SamplesHG01047
Known GenesLARGE
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675700
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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