A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1219477



Internal ID5349582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227203408..227203408hg38UCSC Ensembl
chr2:228068124..228068124hg19UCSC Ensembl
chr2:227776368..227776368hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4153496
SamplesHuRef
Known GenesCOL4A3
MethodSequencing
Analysis
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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