A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592930



Internal ID6633213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152076678..152124243hg38UCSC Ensembl
chr2:152933192..152980757hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3847566
hg1947566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10711522
SamplesHG03814
Known GenesCACNB4, STAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592930
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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