A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403196



Internal ID15250158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93552155..93552155hg38UCSC Ensembl
Innerchr1:93552154..93552156hg38UCSC Ensembl
Outerchr1:93552095..93552205hg38UCSC Ensembl
chr1:94017712..94017712hg19UCSC Ensembl
Innerchr1:94017711..94017713hg19UCSC Ensembl
Outerchr1:94017652..94017762hg19UCSC Ensembl
chr1:93790300..93790300hg18UCSC Ensembl
Innerchr1:93790301..93790299hg18UCSC Ensembl
Outerchr1:93790240..93790350hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8824836
SamplesNA12878
Known GenesFNBP1L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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