A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657693



Internal ID9577112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133150683..133155164hg38UCSC Ensembl
chr11:133020578..133025059hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg384482
hg194482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5847565, essv5898338, essv6017996
SamplesNA19430, NA19379, NA19399
Known GenesOPCML
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657693
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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