A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv167e59



Internal ID22761387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989106..120095826hg38UCSC Ensembl
chr1:120531729..120638427hg19UCSC Ensembl
chr1:120333252..120439950hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38106721
hg19106699
hg18106699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3424178, esv3389755
SamplesNA12878, NA12892
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv167e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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