A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627894



Internal ID7014719
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14293367, essv14293366, essv14293368, essv14293365
SamplesNA12249, HG01174, NA20803, NA19346
Known GenesPVRL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627894
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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