A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676852



Internal ID9596271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109008191..109008920hg38UCSC Ensembl
chr9:111770471..111771200hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5477931, essv5739162
SamplesNA19700, NA18615
Known GenesCTNNAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676852
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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