A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1260872



Internal ID12423996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110479463..110479463hg38UCSC Ensembl
chr13:111131810..111131810hg19UCSC Ensembl
chr13:109929811..109929811hg18UCSC 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 Variantsessv4108073
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1260872
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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