A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174987



Internal ID4176803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60460477..60461927hg38UCSC Ensembl
Innerchr11:60460491..60461913hg38UCSC Ensembl
Outerchr11:60460463..60461941hg38UCSC Ensembl
chr11:60227950..60229400hg19UCSC Ensembl
Innerchr11:60227964..60229386hg19UCSC Ensembl
Outerchr11:60227936..60229414hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381451
hg191451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626558
Supporting Variants
SamplesHG01350
Known GenesMS4A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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