A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1576880



Internal ID12740001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110481849..110481849hg38UCSC Ensembl
chr13:111134196..111134196hg19UCSC Ensembl
chr13:109932197..109932197hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38354
hg19354
hg18354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3667277
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1576880
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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