A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383960



Internal ID14884238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65604082..65604082hg38UCSC Ensembl
Innerchr4:65604081..65604083hg38UCSC Ensembl
Outerchr4:65604042..65604102hg38UCSC Ensembl
chr4:66469800..66469800hg19UCSC Ensembl
Innerchr4:66469799..66469801hg19UCSC Ensembl
Outerchr4:66469760..66469820hg19UCSC Ensembl
chr4:66152395..66152395hg18UCSC Ensembl
Innerchr4:66152396..66152394hg18UCSC Ensembl
Outerchr4:66152355..66152415hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8646224
Samples
Known GenesEPHA5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383960
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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