A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402420



Internal ID14902696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152526237..152526256hg38UCSC Ensembl
Innerchr2:152526233..152526260hg38UCSC Ensembl
Outerchr2:152526214..152526279hg38UCSC Ensembl
chr2:153382751..153382770hg19UCSC Ensembl
Innerchr2:153382747..153382774hg19UCSC Ensembl
Outerchr2:153382728..153382793hg19UCSC Ensembl
chr2:153090997..153091016hg18UCSC Ensembl
Innerchr2:153091020..153090993hg18UCSC Ensembl
Outerchr2:153090974..153091039hg18UCSC Ensembl
Cytoband2q23.3
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 Variantsessv9604957
SamplesNA18970
Known GenesFMNL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402420
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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