A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675552



Internal ID9941657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90674670..90682479hg38UCSC Ensembl
chr11:90407838..90415647hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg387810
hg197810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6333771, essv5703747
SamplesNA19076, NA18539
Known GenesDISC1FP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675552
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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