A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7753546



Internal ID14829740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144448065..144448066hg38UCSC Ensembl
Innerchr5:144448032..144448099hg38UCSC Ensembl
Outerchr5:144448031..144448100hg38UCSC Ensembl
chr5:143827628..143827629hg19UCSC Ensembl
Innerchr5:143827595..143827662hg19UCSC Ensembl
Outerchr5:143827594..143827663hg19UCSC Ensembl
chr5:143807821..143807822hg18UCSC Ensembl
Innerchr5:143807855..143807788hg18UCSC Ensembl
Outerchr5:143807787..143807856hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306963
Supporting Variants
SamplesNA19099
Known GenesKCTD16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7753546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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