A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693874



Internal ID15039587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16466541..16468439hg38UCSC Ensembl
Innerchr3:16467439..16467541hg38UCSC Ensembl
Outerchr3:16465541..16469439hg38UCSC Ensembl
chr3:16508048..16509946hg19UCSC Ensembl
Innerchr3:16508946..16509048hg19UCSC Ensembl
Outerchr3:16507048..16510946hg19UCSC Ensembl
chr3:16483052..16484950hg18UCSC Ensembl
Innerchr3:16484052..16483950hg18UCSC Ensembl
Outerchr3:16482052..16485950hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3430328
Supporting Variants
SamplesNA19239
Known GenesRFTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693874
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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