A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448387



Internal ID15295336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151740091..151740125hg38UCSC Ensembl
Innerchr5:151740104..151740109hg38UCSC Ensembl
Outerchr5:151740070..151740143hg38UCSC Ensembl
chr5:151119652..151119686hg19UCSC Ensembl
Innerchr5:151119665..151119670hg19UCSC Ensembl
Outerchr5:151119631..151119704hg19UCSC Ensembl
chr5:151099845..151099879hg18UCSC Ensembl
Innerchr5:151099863..151099858hg18UCSC Ensembl
Outerchr5:151099824..151099897hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8927156, essv8927155
SamplesNA18523, NA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448387
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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