A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1849e59



Internal ID22763069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9809070..9809278hg38UCSC Ensembl
chr18:9809067..9809275hg19UCSC Ensembl
chr18:9799067..9799275hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302576, esv3303026
SamplesNA12717, NA11829, NA18861, NA18603, NA12045, NA12751, NA12004, NA12750, NA07346, NA18563, NA19005, NA18944, NA18940, NA12891, NA18558, NA18571, NA12287, NA19138, NA18964, NA19238, NA11994, NA18638, NA11993, NA18951, NA12878, NA18956, NA18579, NA18572, NA18566, NA18573, NA18499, NA12249, NA12892, NA19225, NA18858, NA18593, NA18945, NA18576, NA12043, NA18952, NA19147, NA19240, NA07051, NA18609, NA12006, NA07000, NA12154, NA12776, NA18965
Known GenesRAB31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv1849e59
Frequency
Sample Size185
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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