A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304688



Internal ID15151636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151740098..151740099hg38UCSC Ensembl
Innerchr5:151740059..151740138hg38UCSC Ensembl
Outerchr5:151740058..151740139hg38UCSC Ensembl
chr5:151119659..151119660hg19UCSC Ensembl
Innerchr5:151119620..151119699hg19UCSC Ensembl
Outerchr5:151119619..151119700hg19UCSC Ensembl
chr5:151099852..151099853hg18UCSC Ensembl
Innerchr5:151099892..151099813hg18UCSC Ensembl
Outerchr5:151099812..151099893hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746600, essv7754953
SamplesNA18523, NA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304688
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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