A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569826



Internal ID7041208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65609984..65609984hg38UCSC Ensembl
chr3:65595659..65595659hg19UCSC Ensembl
chr3:65570699..65570699hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992084
Supporting Variants
SamplesHuRef
Known GenesMAGI1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569826
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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