A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv733e199



Internal ID20124035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132912041..132916906hg38UCSC Ensembl
chr2:133669614..133674479hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg384866
hg194866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667424, esv2672006
SamplesHG00182, HG00280
Known GenesMIR7853, NCKAP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv733e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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