A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5952791



Internal ID9654598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160234hg38UCSC Ensembl
chr2:166014693..166016744hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667791
Supporting Variants
SamplesNA19384
Known GenesSCN3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5952791
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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