A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369125



Internal ID15216101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134441111..134442020hg38UCSC Ensembl
Innerchr5:134441111..134442020hg38UCSC Ensembl
Outerchr5:134440971..134442068hg38UCSC Ensembl
chr5:133776802..133777711hg19UCSC Ensembl
Innerchr5:133776802..133777711hg19UCSC Ensembl
Outerchr5:133776662..133777759hg19UCSC Ensembl
chr5:133804701..133805610hg18UCSC Ensembl
Innerchr5:133804701..133805610hg18UCSC Ensembl
Outerchr5:133804561..133805658hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38910
hg19910
hg18910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652277
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369125
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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