A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694282



Internal ID15080804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182809705..182810703hg38UCSC Ensembl
Innerchr4:182809704..182810704hg38UCSC Ensembl
Outerchr4:182808705..182811703hg38UCSC Ensembl
chr4:183730858..183731856hg19UCSC Ensembl
Innerchr4:183730857..183731857hg19UCSC Ensembl
Outerchr4:183729858..183732856hg19UCSC Ensembl
chr4:183967852..183968850hg18UCSC Ensembl
Innerchr4:183968851..183967851hg18UCSC Ensembl
Outerchr4:183966852..183969850hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431224
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694282
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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