A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664094



Internal ID9583513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113116653..113119225hg38UCSC Ensembl
chr11:112987375..112989947hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6133192, essv6124390, essv5638838, essv6377345, essv6264931, essv6409447, essv5596461, essv6588977, essv6579536, essv5885696, essv5845855
SamplesNA18923, NA19916, NA19137, NA19707, NA18856, NA19318, NA19625, NA18858, NA18517, NA19116, NA19900
Known GenesNCAM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664094
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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