A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451255



Internal ID15298202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43540700..43541478hg38UCSC Ensembl
Innerchr5:43540700..43541478hg38UCSC Ensembl
Outerchr5:43539053..43541724hg38UCSC Ensembl
chr5:43540802..43541580hg19UCSC Ensembl
Innerchr5:43540802..43541580hg19UCSC Ensembl
Outerchr5:43539155..43541826hg19UCSC Ensembl
chr5:43576559..43577337hg18UCSC Ensembl
Innerchr5:43576559..43577337hg18UCSC Ensembl
Outerchr5:43574912..43577583hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38779
hg19779
hg18779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652295
SamplesNA19240
Known GenesPAIP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451255
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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