A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418512



Internal ID15265470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68557597..68557597hg38UCSC Ensembl
Innerchr5:68557596..68557598hg38UCSC Ensembl
Outerchr5:68557537..68557647hg38UCSC Ensembl
chr5:67853424..67853424hg19UCSC Ensembl
Innerchr5:67853423..67853425hg19UCSC Ensembl
Outerchr5:67853364..67853474hg19UCSC Ensembl
chr5:67889180..67889180hg18UCSC Ensembl
Innerchr5:67889181..67889179hg18UCSC Ensembl
Outerchr5:67889120..67889230hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8836495
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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