A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1219477



Internal ID1155438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228068124..228068124hg19UCSC Ensembl
chr2:227776368..227776368hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg19102
hg18102
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4153496
SamplesHuRef
Known GenesCOL4A3
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1219477
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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