A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361616



Internal ID15208594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561865..64561877hg38UCSC Ensembl
Innerchr5:64561856..64561883hg38UCSC Ensembl
Outerchr5:64561844..64561898hg38UCSC Ensembl
chr5:63857692..63857704hg19UCSC Ensembl
Innerchr5:63857683..63857710hg19UCSC Ensembl
Outerchr5:63857671..63857725hg19UCSC Ensembl
chr5:63893448..63893460hg18UCSC Ensembl
Innerchr5:63893466..63893439hg18UCSC Ensembl
Outerchr5:63893427..63893481hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38189
hg19189
hg18189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675995, essv8675994
SamplesNA19238, NA19240
Known GenesRGS7BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361616
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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