A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8927026



Internal ID14354221
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 StatusS
Merged Variantsesv3326768
Supporting Variants
SamplesNA18856
Known GenesKCTD16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8927026
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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