A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583758



Internal ID7055140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241614734..241614734hg38UCSC Ensembl
chr1:241778036..241778036hg19UCSC Ensembl
chr1:239844659..239844659hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007397
Supporting Variants
SamplesHuRef
Known GenesOPN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583758
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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