A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842217



Internal ID15084069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241456775..241456776hg38UCSC Ensembl
Innerchr1:241456758..241456793hg38UCSC Ensembl
Outerchr1:241456757..241456794hg38UCSC Ensembl
chr1:241620075..241620076hg19UCSC Ensembl
Innerchr1:241620058..241620093hg19UCSC Ensembl
Outerchr1:241620057..241620094hg19UCSC Ensembl
chr1:239686698..239686699hg18UCSC Ensembl
Innerchr1:239686716..239686681hg18UCSC Ensembl
Outerchr1:239686680..239686717hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308556
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842217
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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