A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591965



Internal ID6632248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110642083..110829253hg38UCSC Ensembl
chr2:111399660..111586830hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38187171
hg19187171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10617817
SamplesHG01915
Known GenesACOXL, BUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591965
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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