A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429415



Internal ID14929685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223866461..223866461hg38UCSC Ensembl
Innerchr2:223866460..223866462hg38UCSC Ensembl
Outerchr2:223866421..223866481hg38UCSC Ensembl
chr2:224731178..224731178hg19UCSC Ensembl
Innerchr2:224731177..224731179hg19UCSC Ensembl
Outerchr2:224731138..224731198hg19UCSC Ensembl
chr2:224439422..224439422hg18UCSC Ensembl
Innerchr2:224439423..224439421hg18UCSC Ensembl
Outerchr2:224439382..224439442hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8644450
Samples
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429415
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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