A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441590



Internal ID15288543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:118284549..118284597hg38UCSC Ensembl
Innerchr3:118284570..118284574hg38UCSC Ensembl
Outerchr3:118284526..118284618hg38UCSC Ensembl
chr3:118003396..118003444hg19UCSC Ensembl
Innerchr3:118003417..118003421hg19UCSC Ensembl
Outerchr3:118003373..118003465hg19UCSC Ensembl
chr3:119486086..119486134hg18UCSC Ensembl
Innerchr3:119486107..119486111hg18UCSC Ensembl
Outerchr3:119486063..119486155hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915168, essv8915167, essv8915165, essv8915166
SamplesNA18916, NA19257, NA18505, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441590
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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