A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8833314



Internal ID13680988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16096249..16096249hg38UCSC Ensembl
Innerchr4:16096248..16096250hg38UCSC Ensembl
Outerchr4:16096189..16096299hg38UCSC Ensembl
chr4:16097872..16097872hg19UCSC Ensembl
Innerchr4:16097871..16097873hg19UCSC Ensembl
Outerchr4:16097812..16097922hg19UCSC Ensembl
chr4:15706970..15706970hg18UCSC Ensembl
Innerchr4:15706971..15706969hg18UCSC Ensembl
Outerchr4:15706910..15707020hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3364589
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8833314
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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