A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414527



Internal ID14914800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223610153..223610428hg38UCSC Ensembl
Innerchr1:223610203..223610378hg38UCSC Ensembl
Outerchr1:223610145..223610478hg38UCSC Ensembl
chr1:223797855..223798130hg19UCSC Ensembl
Innerchr1:223797905..223798080hg19UCSC Ensembl
Outerchr1:223797847..223798180hg19UCSC Ensembl
chr1:221864478..221864753hg18UCSC Ensembl
Innerchr1:221864528..221864703hg18UCSC Ensembl
Outerchr1:221864428..221864803hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740949
SamplesNA19240
Known GenesCAPN8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414527
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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