A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995186



Internal ID7079609
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574008
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995186
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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