A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449158



Internal ID14949421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40202967..40202991hg38UCSC Ensembl
Innerchr4:40202969..40202989hg38UCSC Ensembl
Outerchr4:40202965..40202993hg38UCSC Ensembl
chr4:40204587..40204611hg19UCSC Ensembl
Innerchr4:40204589..40204609hg19UCSC Ensembl
Outerchr4:40204585..40204613hg19UCSC Ensembl
chr4:39880982..39881006hg18UCSC Ensembl
Innerchr4:39880984..39881004hg18UCSC Ensembl
Outerchr4:39880980..39881008hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864269
SamplesNA12005
Known GenesRHOH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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