A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670403



Internal ID9936508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123418679..123422919hg38UCSC Ensembl
chr9:126180958..126185198hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384241
hg194241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5418002
SamplesHG00654
Known GenesDENND1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670403
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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