A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310028



Internal ID15156979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22514247..22514248hg38UCSC Ensembl
Innerchr4:22514221..22514274hg38UCSC Ensembl
Outerchr4:22514220..22514275hg38UCSC Ensembl
chr4:22515870..22515871hg19UCSC Ensembl
Innerchr4:22515844..22515897hg19UCSC Ensembl
Outerchr4:22515843..22515898hg19UCSC Ensembl
chr4:22124968..22124969hg18UCSC Ensembl
Innerchr4:22124995..22124942hg18UCSC Ensembl
Outerchr4:22124941..22124996hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837512, essv7836684
SamplesNA19239, NA19240
Known GenesGPR125
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310028
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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