A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4092e59



Internal ID20130841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101372..14101574hg38UCSC Ensembl
chr8:13958881..13959083hg19UCSC Ensembl
chr8:14003252..14003454hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302622, esv3302774
SamplesNA11829, NA18592, NA10851, NA12045, NA12751, NA12155, NA07357, NA12891, NA18558, NA18942, NA11992, NA07347, NA18571, NA12761, NA12828, NA11993, NA10847, NA18951, NA12003, NA12878, NA18579, NA18566, NA11919, NA12249, NA18555, NA12144, NA18570, NA18961, NA18952, NA07051, NA06986, NA12749, NA12006, NA12154, NA18965, NA18577
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4092e59
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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