A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741141



Internal ID13529221
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 StatusS
Merged Variantsesv3306089
Supporting Variants
SamplesNA18517
Known GenesGRM5, GRM5-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741141
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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