A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380387



Internal ID14880660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42474863..42474880hg38UCSC Ensembl
Innerchr5:42474864..42474879hg38UCSC Ensembl
Outerchr5:42474847..42474896hg38UCSC Ensembl
chr5:42474965..42474982hg19UCSC Ensembl
Innerchr5:42474966..42474981hg19UCSC Ensembl
Outerchr5:42474949..42474998hg19UCSC Ensembl
chr5:42510722..42510739hg18UCSC Ensembl
Innerchr5:42510738..42510723hg18UCSC Ensembl
Outerchr5:42510706..42510755hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864446
SamplesNA12005
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380387
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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