A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308195



Internal ID15155143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561861..64561862hg38UCSC Ensembl
Innerchr5:64561832..64561891hg38UCSC Ensembl
Outerchr5:64561831..64561892hg38UCSC Ensembl
chr5:63857688..63857689hg19UCSC Ensembl
Innerchr5:63857659..63857718hg19UCSC Ensembl
Outerchr5:63857658..63857719hg19UCSC Ensembl
chr5:63893444..63893445hg18UCSC Ensembl
Innerchr5:63893474..63893415hg18UCSC Ensembl
Outerchr5:63893414..63893475hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838227, essv7837107, essv7839032
SamplesNA12891, NA19238, NA19239
Known GenesRGS7BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308195
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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