A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293364



Internal ID4295180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119634114..119639011hg38UCSC Ensembl
Innerchr11:119634114..119639011hg38UCSC Ensembl
Outerchr11:119633898..119639344hg38UCSC Ensembl
chr11:119504825..119509721hg19UCSC Ensembl
Innerchr11:119504825..119509721hg19UCSC Ensembl
Outerchr11:119504609..119510054hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384898
hg194897
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627893
Supporting Variants
SamplesNA20849
Known GenesPVRL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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