A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417080



Internal ID15264038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:629009..635007hg38UCSC Ensembl
Innerchr1:630009..634007hg38UCSC Ensembl
Outerchr1:628009..636007hg38UCSC Ensembl
chr1:564389..570387hg19UCSC Ensembl
Innerchr1:565389..569387hg19UCSC Ensembl
Outerchr1:563389..571387hg19UCSC Ensembl
chr1:554252..560250hg18UCSC Ensembl
Innerchr1:555252..559250hg18UCSC Ensembl
Outerchr1:553252..561250hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692377
SamplesNA19239
Known GenesMIR6723
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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