A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594584



Internal ID6981904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229856243..230039898hg38UCSC Ensembl
chr2:230720959..230904614hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183656
hg19183656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10873388, essv10873389
SamplesNA12748, HG03160
Known GenesFBXO36, SLC16A14, TRIP12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594584
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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