A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv143e59



Internal ID22761363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93875914..93876215hg38UCSC Ensembl
chr1:94341470..94341771hg19UCSC Ensembl
chr1:94114058..94114359hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3325380, esv3417654
SamplesNA12878, NA19240
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform454
SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv143e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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