A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350549



Internal ID14850813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10970823..10971437hg38UCSC Ensembl
Innerchr1:10970822..10971438hg38UCSC Ensembl
Outerchr1:10970713..10971557hg38UCSC Ensembl
chr1:11030880..11031494hg19UCSC Ensembl
Innerchr1:11030879..11031495hg19UCSC Ensembl
Outerchr1:11030770..11031614hg19UCSC Ensembl
chr1:10953467..10954081hg18UCSC Ensembl
Innerchr1:10954082..10953466hg18UCSC Ensembl
Outerchr1:10953357..10954201hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38615
hg19615
hg18615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808880
SamplesNA12878
Known GenesC1orf127
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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