A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694676



Internal ID14699889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178146745..178148143hg38UCSC Ensembl
Innerchr5:178147143..178147745hg38UCSC Ensembl
Outerchr5:178145745..178149143hg38UCSC Ensembl
chr5:177573746..177575144hg19UCSC Ensembl
Innerchr5:177574144..177574746hg19UCSC Ensembl
Outerchr5:177572746..177576144hg19UCSC Ensembl
chr5:177506352..177507750hg18UCSC Ensembl
Innerchr5:177507352..177506750hg18UCSC Ensembl
Outerchr5:177505352..177508750hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352132
Supporting Variants
SamplesNA19239
Known GenesRMND5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694676
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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