A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363109



Internal ID15210087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3604528..3605826hg38UCSC Ensembl
Innerchr1:3604826..3605528hg38UCSC Ensembl
Outerchr1:3603528..3606826hg38UCSC Ensembl
chr1:3521092..3522390hg19UCSC Ensembl
Innerchr1:3521390..3522092hg19UCSC Ensembl
Outerchr1:3520092..3523390hg19UCSC Ensembl
chr1:3510952..3512250hg18UCSC Ensembl
Innerchr1:3511952..3511250hg18UCSC Ensembl
Outerchr1:3509952..3513250hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e59
Supporting Variantsessv8692304
SamplesNA19240
Known GenesMEGF6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363109
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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