A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341210



Internal ID15188197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989306..119998704hg38UCSC Ensembl
Innerchr1:119990306..119997704hg38UCSC Ensembl
Outerchr1:119988306..119999704hg38UCSC Ensembl
chr1:120531929..120541327hg19UCSC Ensembl
Innerchr1:120532929..120540327hg19UCSC Ensembl
Outerchr1:120530929..120542327hg19UCSC Ensembl
chr1:120333452..120342850hg18UCSC Ensembl
Innerchr1:120334452..120341850hg18UCSC Ensembl
Outerchr1:120332452..120343850hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg389399
hg199399
hg189399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166e59
Supporting Variantsessv8691763
SamplesNA12891
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341210
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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