A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326768



Internal ID15173751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448057..144448082hg38UCSC Ensembl
Innerchr5:144448064..144448075hg38UCSC Ensembl
Outerchr5:144448039..144448100hg38UCSC Ensembl
chr5:143827620..143827645hg19UCSC Ensembl
Innerchr5:143827627..143827638hg19UCSC Ensembl
Outerchr5:143827602..143827663hg19UCSC Ensembl
chr5:143807813..143807838hg18UCSC Ensembl
Innerchr5:143807831..143807820hg18UCSC Ensembl
Outerchr5:143807795..143807856hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927024, essv8927023, essv8927026, essv8927022
SamplesNA19190, NA18871, NA18856, NA19099
Known GenesKCTD16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326768
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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