A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428758



Internal ID15275714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84588871..84588880hg38UCSC Ensembl
Innerchr1:84588864..84588887hg38UCSC Ensembl
Outerchr1:84588855..84588896hg38UCSC Ensembl
chr1:85054554..85054563hg19UCSC Ensembl
Innerchr1:85054547..85054570hg19UCSC Ensembl
Outerchr1:85054538..85054579hg19UCSC Ensembl
chr1:84827142..84827151hg18UCSC Ensembl
Innerchr1:84827158..84827135hg18UCSC Ensembl
Outerchr1:84827126..84827167hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674137, essv8674138, essv8674139
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428758
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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