A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14314600



Internal ID4358426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131251482..131253827hg38UCSC Ensembl
Innerchr11:131251489..131253820hg38UCSC Ensembl
Outerchr11:131251475..131253834hg38UCSC Ensembl
chr11:131121377..131123722hg19UCSC Ensembl
Innerchr11:131121384..131123715hg19UCSC Ensembl
Outerchr11:131121370..131123729hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg382346
hg192346
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628102
Supporting Variants
SamplesHG03894
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14314600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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