A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303432



Internal ID15150380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184376054..184376055hg38UCSC Ensembl
Innerchr4:184376006..184376103hg38UCSC Ensembl
Outerchr4:184376005..184376104hg38UCSC Ensembl
chr4:185297208..185297209hg19UCSC Ensembl
Innerchr4:185297160..185297257hg19UCSC Ensembl
Outerchr4:185297159..185297258hg19UCSC Ensembl
chr4:185534202..185534203hg18UCSC Ensembl
Innerchr4:185534251..185534154hg18UCSC Ensembl
Outerchr4:185534153..185534252hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746889, essv7763026
SamplesNA19138, NA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303432
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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