A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594572



Internal ID6634848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229347352..229417034hg38UCSC Ensembl
chr2:230212068..230281750hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3869683
hg1969683
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10872642
SamplesHG03160
Known GenesDNER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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