A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369721



Internal ID14869980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40752823..40752823hg38UCSC Ensembl
Innerchr4:40752822..40752824hg38UCSC Ensembl
Outerchr4:40752773..40752873hg38UCSC Ensembl
chr4:40754840..40754840hg19UCSC Ensembl
Innerchr4:40754839..40754841hg19UCSC Ensembl
Outerchr4:40754790..40754890hg19UCSC Ensembl
chr4:40449597..40449597hg18UCSC Ensembl
Innerchr4:40449598..40449596hg18UCSC Ensembl
Outerchr4:40449547..40449647hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701453
SamplesNA12878
Known GenesNSUN7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369721
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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