A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293365



Internal ID4295181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119649333..119652481hg38UCSC Ensembl
Innerchr11:119649483..119652331hg38UCSC Ensembl
Outerchr11:119649183..119652631hg38UCSC Ensembl
chr11:119520043..119523191hg19UCSC Ensembl
Innerchr11:119520193..119523041hg19UCSC Ensembl
Outerchr11:119519893..119523341hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627894
Supporting Variants
SamplesHG01174
Known GenesPVRL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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