A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1561412



Internal ID12724533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45990464..45990464hg38UCSC Ensembl
chr21:47410378..47410378hg19UCSC Ensembl
chr21:46234806..46234806hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3776703
SamplesHuRef
Known GenesCOL6A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1561412
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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