A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348116



Internal ID14848381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79893439..79893458hg38UCSC Ensembl
Innerchr2:79893435..79893462hg38UCSC Ensembl
Outerchr2:79893416..79893481hg38UCSC Ensembl
chr2:80120565..80120584hg19UCSC Ensembl
Innerchr2:80120561..80120588hg19UCSC Ensembl
Outerchr2:80120542..80120607hg19UCSC Ensembl
chr2:79974073..79974092hg18UCSC Ensembl
Innerchr2:79974096..79974069hg18UCSC Ensembl
Outerchr2:79974050..79974115hg18UCSC Ensembl
Cytoband2p12
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 Variantsessv8678657
SamplesNA19240
Known GenesCTNNA2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348116
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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