A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360411



Internal ID15207390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14492600..14493414hg38UCSC Ensembl
Innerchr1:14492600..14493414hg38UCSC Ensembl
Outerchr1:14491399..14493902hg38UCSC Ensembl
chr1:14819096..14819910hg19UCSC Ensembl
Innerchr1:14819096..14819910hg19UCSC Ensembl
Outerchr1:14817895..14820398hg19UCSC Ensembl
chr1:14691683..14692497hg18UCSC Ensembl
Innerchr1:14691683..14692497hg18UCSC Ensembl
Outerchr1:14690482..14692985hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652043
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360411
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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