A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694423



Internal ID15044197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4769124..4771222hg38UCSC Ensembl
Innerchr4:4770124..4770222hg38UCSC Ensembl
Outerchr4:4768124..4772222hg38UCSC Ensembl
chr4:4770851..4772949hg19UCSC Ensembl
Innerchr4:4771851..4771949hg19UCSC Ensembl
Outerchr4:4769851..4773949hg19UCSC Ensembl
chr4:4821752..4823850hg18UCSC Ensembl
Innerchr4:4822752..4822850hg18UCSC Ensembl
Outerchr4:4820752..4824850hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386059
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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