A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1409667



Internal ID12572789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45987816..45987816hg38UCSC Ensembl
chr21:47407730..47407730hg19UCSC Ensembl
chr21:46232158..46232158hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3991847
SamplesHuRef
Known GenesCOL6A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1409667
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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