A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1122523



Internal ID11938960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223119981..223119981hg38UCSC Ensembl
chr1:223293323..223293323hg19UCSC Ensembl
chr1:221359946..221359946hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4067091
SamplesHuRef
Known GenesTLR5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1122523
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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