A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407753



Internal ID14908029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150754211..150754264hg38UCSC Ensembl
Innerchr4:150754220..150754252hg38UCSC Ensembl
Outerchr4:150754199..150754273hg38UCSC Ensembl
chr4:151675363..151675416hg19UCSC Ensembl
Innerchr4:151675372..151675404hg19UCSC Ensembl
Outerchr4:151675351..151675425hg19UCSC Ensembl
chr4:151894813..151894866hg18UCSC Ensembl
Innerchr4:151894822..151894854hg18UCSC Ensembl
Outerchr4:151894801..151894875hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671184, essv8671186
SamplesNA19239, NA19240
Known GenesLRBA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407753
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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