A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306118



Internal ID15153066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41918796..41918797hg38UCSC Ensembl
Innerchr4:41918774..41918819hg38UCSC Ensembl
Outerchr4:41918773..41918820hg38UCSC Ensembl
chr4:41920813..41920814hg19UCSC Ensembl
Innerchr4:41920791..41920836hg19UCSC Ensembl
Outerchr4:41920790..41920837hg19UCSC Ensembl
chr4:41615570..41615571hg18UCSC Ensembl
Innerchr4:41615593..41615548hg18UCSC Ensembl
Outerchr4:41615547..41615594hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764169, essv7766665
SamplesNA12814, NA12874
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306118
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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