A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666998



Internal ID9933103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127405119..127410094hg38UCSC Ensembl
chr11:127275014..127279989hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384976
hg194976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249e199
Supporting Variantsessv6312547, essv6410527, essv6534731, essv6583925, essv6186156, essv5765545, essv5584909, essv6575538
SamplesNA19190, NA18510, NA19189, NA19445, NA19453, NA19467, NA19102, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666998
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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