A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660319



Internal ID9579738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126290630..126292840hg38UCSC Ensembl
chr11:126160525..126162735hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382211
hg192211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5867888, essv5427082, essv6435627
SamplesNA18542, NA18593, NA19078
Known GenesTIRAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660319
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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