A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309693



Internal ID14809958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64026110..64026111hg38UCSC Ensembl
Innerchr1:64026076..64026145hg38UCSC Ensembl
Outerchr1:64026075..64026146hg38UCSC Ensembl
chr1:64491782..64491783hg19UCSC Ensembl
Innerchr1:64491748..64491817hg19UCSC Ensembl
Outerchr1:64491747..64491818hg19UCSC Ensembl
chr1:64264370..64264371hg18UCSC Ensembl
Innerchr1:64264405..64264336hg18UCSC Ensembl
Outerchr1:64264335..64264406hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837709, essv7838585
SamplesNA19238, NA19240
Known GenesROR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309693
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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