A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417623



Internal ID15264581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121133806..121134804hg38UCSC Ensembl
Innerchr2:121133805..121134805hg38UCSC Ensembl
Outerchr2:121132806..121135804hg38UCSC Ensembl
chr2:121891382..121892380hg19UCSC Ensembl
Innerchr2:121891381..121892381hg19UCSC Ensembl
Outerchr2:121890382..121893380hg19UCSC Ensembl
chr2:121607852..121608850hg18UCSC Ensembl
Innerchr2:121608851..121607851hg18UCSC Ensembl
Outerchr2:121606852..121609850hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693402
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417623
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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