A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4271e59



Internal ID20131020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531160..144532358hg38UCSC Ensembl
chr8:145756544..145757742hg19UCSC Ensembl
chr8:145727352..145728550hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3417809, esv3434420, esv3378909
SamplesNA19239, NA12891, NA19240
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv4271e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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