A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567186



Internal ID7038568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36794663..36794663hg38UCSC Ensembl
chr13:37368800..37368800hg19UCSC Ensembl
chr13:36266800..36266800hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991603
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567186
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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