A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309754



Internal ID15156705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:85291966..85291967hg38UCSC Ensembl
Innerchr5:85291842..85292091hg38UCSC Ensembl
Outerchr5:85291841..85292092hg38UCSC Ensembl
chr5:84587784..84587785hg19UCSC Ensembl
Innerchr5:84587660..84587909hg19UCSC Ensembl
Outerchr5:84587659..84587910hg19UCSC Ensembl
chr5:84623540..84623541hg18UCSC Ensembl
Innerchr5:84623665..84623416hg18UCSC Ensembl
Outerchr5:84623415..84623666hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38105
hg19105
hg18105
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838964, essv7837746, essv7836933, essv7838065
SamplesNA19238, NA19239, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309754
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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