A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873390



Internal ID439060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229856243..230039898hg38UCSC Ensembl
chr2:230720959..230904614hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183656
hg19183656
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594585
Supporting Variants
SamplesHG00136
Known GenesFBXO36, SLC16A14, TRIP12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873390
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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