A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5489361



Internal ID9211380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230012400..230014960hg38UCSC Ensembl
chr2:230877116..230879676hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675475
Supporting Variants
SamplesNA07048
Known GenesFBXO36
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5489361
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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