A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375211



Internal ID14875475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42302951..42303012hg38UCSC Ensembl
Innerchr1:42302973..42302990hg38UCSC Ensembl
Outerchr1:42302912..42303051hg38UCSC Ensembl
chr1:42768622..42768683hg19UCSC Ensembl
Innerchr1:42768644..42768661hg19UCSC Ensembl
Outerchr1:42768583..42768722hg19UCSC Ensembl
chr1:42541209..42541270hg18UCSC Ensembl
Innerchr1:42541248..42541231hg18UCSC Ensembl
Outerchr1:42541170..42541309hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8898898, essv8898896, essv8898897, essv8898899
SamplesNA19102, NA18522, NA19138, NA18907
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375211
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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