A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309539



Internal ID15156490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36318476..36318477hg38UCSC Ensembl
Innerchr11:36318443..36318510hg38UCSC Ensembl
Outerchr11:36318442..36318511hg38UCSC Ensembl
chr11:36340026..36340027hg19UCSC Ensembl
Innerchr11:36339993..36340060hg19UCSC Ensembl
Outerchr11:36339992..36340061hg19UCSC Ensembl
chr11:36296602..36296603hg18UCSC Ensembl
Innerchr11:36296636..36296569hg18UCSC Ensembl
Outerchr11:36296568..36296637hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836658, essv7838051, essv7837829, essv7837371, essv7838795
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesPRR5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309539
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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