A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444518



Internal ID14944785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156586463..156586469hg38UCSC Ensembl
Innerchr1:156586455..156586475hg38UCSC Ensembl
Outerchr1:156586449..156586483hg38UCSC Ensembl
chr1:156556255..156556261hg19UCSC Ensembl
Innerchr1:156556247..156556267hg19UCSC Ensembl
Outerchr1:156556241..156556275hg19UCSC Ensembl
chr1:154822879..154822885hg18UCSC Ensembl
Innerchr1:154822891..154822871hg18UCSC Ensembl
Outerchr1:154822865..154822899hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673775, essv8673777
SamplesNA19239, NA19240
Known GenesTTC24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444518
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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