A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429795



Internal ID14930065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162067038..162067038hg38UCSC Ensembl
Innerchr2:162067037..162067039hg38UCSC Ensembl
Outerchr2:162066978..162067088hg38UCSC Ensembl
chr2:162923548..162923548hg19UCSC Ensembl
Innerchr2:162923547..162923549hg19UCSC Ensembl
Outerchr2:162923488..162923598hg19UCSC Ensembl
chr2:162631794..162631794hg18UCSC Ensembl
Innerchr2:162631795..162631793hg18UCSC Ensembl
Outerchr2:162631734..162631844hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8828402
SamplesNA12878
Known GenesDPP4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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