A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355384



Internal ID14855648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88506959..88506974hg38UCSC Ensembl
Innerchr11:88506958..88506975hg38UCSC Ensembl
Outerchr11:88506943..88506990hg38UCSC Ensembl
chr11:88240127..88240142hg19UCSC Ensembl
Innerchr11:88240126..88240143hg19UCSC Ensembl
Outerchr11:88240111..88240158hg19UCSC Ensembl
chr11:87879775..87879790hg18UCSC Ensembl
Innerchr11:87879791..87879774hg18UCSC Ensembl
Outerchr11:87879759..87879806hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8953817, essv8953813, essv8953812, essv8953814, essv8953811, essv8953809, essv8953816, essv8953810, essv8953819, essv8953818
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)esv3355384
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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