A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv318e59



Internal ID20127067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236713429..236715127hg38UCSC Ensembl
chr1:236876729..236878427hg19UCSC Ensembl
chr1:234943352..234945050hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3406534, esv3368260, esv3337760, esv3389665
SamplesNA12892, NA19238, NA12891, NA12878
Known GenesACTN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv318e59
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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