A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv168e59



Internal ID22761388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120011906..120068613hg38UCSC Ensembl
chr1:120554529..120611227hg19UCSC Ensembl
chr1:120356052..120412750hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3856708
hg1956699
hg1856699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3413453, esv3324912
SamplesNA12891, NA19238
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv168e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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