A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv166e59



Internal ID22761386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989106..120000004hg38UCSC Ensembl
chr1:120531729..120542627hg19UCSC Ensembl
chr1:120333252..120344150hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3810899
hg1910899
hg1810899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3365653, esv3323973, esv3341210
SamplesNA12891, NA19238, NA19239
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv166e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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