A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664251



Internal ID9583670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126291589..126292459hg38UCSC Ensembl
Outerchr11:126291422..126292654hg38UCSC Ensembl
Innerchr11:126161484..126162354hg19UCSC Ensembl
Outerchr11:126161317..126162549hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6242415, essv6528035, essv6438495, essv6354009, essv5465435
SamplesNA19332, NA18499, NA19436, NA19223, NA20334
Known GenesTIRAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664251
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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