A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306089



Internal ID14806351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88506961..88506962hg38UCSC Ensembl
Innerchr11:88506933..88506990hg38UCSC Ensembl
Outerchr11:88506932..88506991hg38UCSC Ensembl
chr11:88240129..88240130hg19UCSC Ensembl
Innerchr11:88240101..88240158hg19UCSC Ensembl
Outerchr11:88240100..88240159hg19UCSC Ensembl
chr11:87879777..87879778hg18UCSC Ensembl
Innerchr11:87879806..87879749hg18UCSC Ensembl
Outerchr11:87879748..87879807hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759045, essv7746599, essv7741141, essv7759871, essv7756068, essv7742193, essv7749475, essv7754950, essv7743348, essv7741242
SamplesNA18870, NA18523, NA18516, NA18517, NA19210, NA18508, NA18916, NA19172, NA18858, NA18519
Known GenesGRM5, GRM5-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306089
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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