A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923458



Internal ID12993828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16470208..16470228hg38UCSC Ensembl
Innerchr5:16470214..16470220hg38UCSC Ensembl
Outerchr5:16470196..16470240hg38UCSC Ensembl
chr5:16470317..16470337hg19UCSC Ensembl
Innerchr5:16470323..16470329hg19UCSC Ensembl
Outerchr5:16470305..16470349hg19UCSC Ensembl
chr5:16523317..16523337hg18UCSC Ensembl
Innerchr5:16523329..16523323hg18UCSC Ensembl
Outerchr5:16523305..16523349hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342393
Supporting Variants
SamplesNA06986
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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