A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659017



Internal ID9925122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233741433..233753113hg38UCSC Ensembl
chr2:234650079..234661759hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811681
hg1911681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv769e199
Supporting Variantsessv5861249, essv5689056, essv6216689, essv5404763, essv5869013, essv6515494, essv5670123, essv6317024, essv6441488, essv5600501, essv6457761, essv5515370, essv6170081, essv6305728, essv6312881, essv5412025, essv5615558, essv5940572, essv6510452, essv6402787
SamplesHG01060, HG01462, HG00361, HG00306, NA19777, NA19190, NA19107, NA19660, NA19373, NA19448, NA19383, NA19908, NA12003, NA19453, HG00246, NA20544, HG00256, NA18522, HG01097, HG01516
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659017
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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