A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9617746



Internal ID13618211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120661080..120661099hg38UCSC Ensembl
Innerchr4:120661076..120661103hg38UCSC Ensembl
Outerchr4:120661057..120661122hg38UCSC Ensembl
chr4:121582235..121582254hg19UCSC Ensembl
Innerchr4:121582231..121582258hg19UCSC Ensembl
Outerchr4:121582212..121582277hg19UCSC Ensembl
chr4:121801685..121801704hg18UCSC Ensembl
Innerchr4:121801708..121801681hg18UCSC Ensembl
Outerchr4:121801662..121801727hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359074
Supporting Variants
SamplesNA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9617746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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