A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694454



Internal ID13637647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49605778..49658076hg38UCSC Ensembl
Innerchr4:49606778..49657076hg38UCSC Ensembl
Outerchr4:49604778..49658100hg38UCSC Ensembl
chr4:49607795..49660093hg19UCSC Ensembl
Innerchr4:49608795..49659093hg19UCSC Ensembl
Outerchr4:49606795..49660117hg19UCSC Ensembl
chr4:49302552..49354850hg18UCSC Ensembl
Innerchr4:49303552..49353850hg18UCSC Ensembl
Outerchr4:49301552..49355850hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3852299
hg1952299
hg1852299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3325928
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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