A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627868



Internal ID7014693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118363820..118364764hg38UCSC Ensembl
Innerchr11:118363870..118364714hg38UCSC Ensembl
Outerchr11:118363741..118364843hg38UCSC Ensembl
chr11:118234535..118235479hg19UCSC Ensembl
Innerchr11:118234585..118235429hg19UCSC Ensembl
Outerchr11:118234456..118235558hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14293186, essv14293188, essv14293190, essv14293194, essv14293191, essv14293189, essv14293187, essv14293195, essv14293193, essv14293192, essv14293185
SamplesHG01513, NA20589, HG01527, HG00108, HG00273, HG00110, HG01497, HG00382, NA19785, HG00105, NA20503
Known GenesUBE4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627868
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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