A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446604



Internal ID15293554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561869..64561905hg38UCSC Ensembl
Innerchr5:64561875..64561897hg38UCSC Ensembl
Outerchr5:64561839..64561933hg38UCSC Ensembl
chr5:63857696..63857732hg19UCSC Ensembl
Innerchr5:63857702..63857724hg19UCSC Ensembl
Outerchr5:63857666..63857760hg19UCSC Ensembl
chr5:63893452..63893488hg18UCSC Ensembl
Innerchr5:63893480..63893458hg18UCSC Ensembl
Outerchr5:63893422..63893516hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924754, essv8924755
SamplesNA18961, NA19093
Known GenesRGS7BP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446604
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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