A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5730620



Internal ID9364477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157486659..157489356hg38UCSC Ensembl
Outerchr2:157486502..157489509hg38UCSC Ensembl
Innerchr2:158343171..158345868hg19UCSC Ensembl
Outerchr2:158343014..158346021hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672477
Supporting Variants
SamplesNA18559
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5730620
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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