A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303548



Internal ID15150496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40186280..40186281hg38UCSC Ensembl
Innerchr4:40186248..40186313hg38UCSC Ensembl
Outerchr4:40186247..40186314hg38UCSC Ensembl
chr4:40187900..40187901hg19UCSC Ensembl
Innerchr4:40187868..40187933hg19UCSC Ensembl
Outerchr4:40187867..40187934hg19UCSC Ensembl
chr4:39864295..39864296hg18UCSC Ensembl
Innerchr4:39864328..39864263hg18UCSC Ensembl
Outerchr4:39864262..39864329hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740678, essv7761104, essv7755889, essv7746563, essv7754277, essv7753440, essv7759544, essv7758684, essv7749027, essv7754644, essv7742767, essv7759233, essv7740829, essv7743860, essv7743141
SamplesNA18861, NA18508, NA10851, NA07346, NA18916, NA18964, NA18973, NA19099, NA18858, NA18953, NA18952, NA12763, NA19102, NA18511, NA12776
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303548
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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