A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592871



Internal ID6633154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149608689..149641945hg38UCSC Ensembl
chr2:150465203..150498459hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3833257
hg1933257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10709094
SamplesHG03045
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592871
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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