A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8953810



Internal ID13573297
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 StatusS
Merged Variantsesv3355384
Supporting Variants
SamplesNA18523
Known GenesGRM5, GRM5-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8953810
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer