A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574008



Internal ID7045390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110479462..110479462hg38UCSC Ensembl
chr13:111131809..111131809hg19UCSC Ensembl
chr13:109929810..109929810hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995186
Supporting Variants
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574008
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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