A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415950



Internal ID15262909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227916428..227916926hg38UCSC Ensembl
Innerchr1:227916427..227916927hg38UCSC Ensembl
Outerchr1:227915428..227917926hg38UCSC Ensembl
chr1:228104129..228104627hg19UCSC Ensembl
Innerchr1:228104128..228104628hg19UCSC Ensembl
Outerchr1:228103129..228105627hg19UCSC Ensembl
chr1:226170752..226171250hg18UCSC Ensembl
Innerchr1:226171251..226170751hg18UCSC Ensembl
Outerchr1:226169752..226172250hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692139
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415950
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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