A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594730



Internal ID6982050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236725345..236752194hg38UCSC Ensembl
chr2:237633988..237660837hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3826850
hg1926850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10885226
SamplesNA18908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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