A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873398



Internal ID354283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229939628..229952460hg38UCSC Ensembl
chr2:230804344..230817176hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3812833
hg1912833
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594588
Supporting Variants
SamplesHG00099
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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