A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4067091



Internal ID11348097
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1122523
Supporting Variants
SamplesHuRef
Known GenesTLR5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4067091
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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