A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678188



Internal ID9597607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124662271..124669241hg38UCSC Ensembl
Outerchr11:124662234..124669291hg38UCSC Ensembl
Innerchr11:124532167..124539137hg19UCSC Ensembl
Outerchr11:124532130..124539187hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg387058
hg197058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293541
SamplesNA19467
Known GenesSIAE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678188
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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