A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv769e199



Internal ID11593028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233739685..233753113hg38UCSC Ensembl
chr2:234648331..234661759hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813429
hg1913429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674451, esv2659017
SamplesNA20544, NA19453, HG00256, NA19383, NA19660, NA19107, NA19908, NA19190, HG00306, HG01097, HG01516, NA19373, NA18522, HG00246, HG01060, NA19777, NA19446, NA12003, HG01462, NA19448, HG00361
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv769e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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