A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2286e59



Internal ID20129035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159237779..159237876hg38UCSC Ensembl
chr2:160094290..160094387hg19UCSC Ensembl
chr2:159802536..159802633hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302966, esv3302501
SamplesNA18502, NA18947, NA18861, NA18870, NA12287, NA19138, NA19238, NA12828, NA12878, NA18523, NA19108, NA18501, NA19093
Known GenesWDSUB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2286e59
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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