A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8700228



Internal ID13285741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40752822..40752822hg38UCSC Ensembl
Innerchr4:40752821..40752823hg38UCSC Ensembl
Outerchr4:40752732..40752863hg38UCSC Ensembl
chr4:40754839..40754839hg19UCSC Ensembl
Innerchr4:40754838..40754840hg19UCSC Ensembl
Outerchr4:40754749..40754880hg19UCSC Ensembl
chr4:40449596..40449596hg18UCSC Ensembl
Innerchr4:40449597..40449595hg18UCSC Ensembl
Outerchr4:40449506..40449637hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3435455
Supporting Variants
SamplesNA12878
Known GenesNSUN7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8700228
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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