A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427876



Internal ID14928146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225565132..225565143hg38UCSC Ensembl
Innerchr2:225565134..225565141hg38UCSC Ensembl
Outerchr2:225565130..225565145hg38UCSC Ensembl
chr2:226429848..226429859hg19UCSC Ensembl
Innerchr2:226429850..226429857hg19UCSC Ensembl
Outerchr2:226429846..226429861hg19UCSC Ensembl
chr2:226138092..226138103hg18UCSC Ensembl
Innerchr2:226138094..226138101hg18UCSC Ensembl
Outerchr2:226138090..226138105hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864101
SamplesNA12005
Known GenesNYAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427876
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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