A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343672



Internal ID14843940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45257952..45257964hg38UCSC Ensembl
Innerchr5:45257943..45257973hg38UCSC Ensembl
Outerchr5:45257931..45257985hg38UCSC Ensembl
chr5:45258054..45258066hg19UCSC Ensembl
Innerchr5:45258045..45258075hg19UCSC Ensembl
Outerchr5:45258033..45258087hg19UCSC Ensembl
chr5:45293811..45293823hg18UCSC Ensembl
Innerchr5:45293832..45293802hg18UCSC Ensembl
Outerchr5:45293790..45293844hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675938, essv8675937
SamplesNA19239, NA19240
Known GenesHCN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343672
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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