A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567421



Internal ID7038803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110479395..110479395hg38UCSC Ensembl
chr13:111131742..111131742hg19UCSC Ensembl
chr13:109929743..109929743hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992456
Supporting Variants
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567421
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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