A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401275



Internal ID15248238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9636172..9638670hg38UCSC Ensembl
Innerchr2:9637172..9637670hg38UCSC Ensembl
Outerchr2:9635172..9639670hg38UCSC Ensembl
chr2:9776301..9778799hg19UCSC Ensembl
Innerchr2:9777301..9777799hg19UCSC Ensembl
Outerchr2:9775301..9779799hg19UCSC Ensembl
chr2:9693752..9696250hg18UCSC Ensembl
Innerchr2:9694752..9695250hg18UCSC Ensembl
Outerchr2:9692752..9697250hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693784
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401275
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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