A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338907



Internal ID15185894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108525601..108525620hg38UCSC Ensembl
Innerchr2:108525597..108525624hg38UCSC Ensembl
Outerchr2:108525578..108525643hg38UCSC Ensembl
chr2:109142057..109142076hg19UCSC Ensembl
Innerchr2:109142053..109142080hg19UCSC Ensembl
Outerchr2:109142034..109142099hg19UCSC Ensembl
chr2:108508489..108508508hg18UCSC Ensembl
Innerchr2:108508512..108508485hg18UCSC Ensembl
Outerchr2:108508466..108508531hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9603358
SamplesNA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338907
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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