A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5399483



Internal ID8896686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231532439..231535497hg38UCSC Ensembl
Outerchr2:231532402..231535547hg38UCSC Ensembl
Innerchr2:232397150..232400208hg19UCSC Ensembl
Outerchr2:232397113..232400258hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383146
hg193146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659424
Supporting Variants
SamplesHG00344
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5399483
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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