A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304212



Internal ID15151160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45893260..45893261hg38UCSC Ensembl
Innerchr11:45893234..45893287hg38UCSC Ensembl
Outerchr11:45893233..45893288hg38UCSC Ensembl
chr11:45914811..45914812hg19UCSC Ensembl
Innerchr11:45914785..45914838hg19UCSC Ensembl
Outerchr11:45914784..45914839hg19UCSC Ensembl
chr11:45871387..45871388hg18UCSC Ensembl
Innerchr11:45871414..45871361hg18UCSC Ensembl
Outerchr11:45871360..45871415hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758505, essv7749523, essv7750233, essv7743275, essv7755830, essv7752662
SamplesNA18916, NA19239, NA18909, NA19093, NA19102, NA18505
Known GenesMAPK8IP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304212
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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