A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693892



Internal ID15039675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184254670..184255768hg38UCSC Ensembl
Innerchr3:184254768..184255670hg38UCSC Ensembl
Outerchr3:184253670..184256768hg38UCSC Ensembl
chr3:183972458..183973556hg19UCSC Ensembl
Innerchr3:183972556..183973458hg19UCSC Ensembl
Outerchr3:183971458..183974556hg19UCSC Ensembl
chr3:185455152..185456250hg18UCSC Ensembl
Innerchr3:185456152..185455250hg18UCSC Ensembl
Outerchr3:185454152..185457250hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3349613
Supporting Variants
SamplesNA19239
Known GenesECE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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