A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1025241



Internal ID12188366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45987838..45987838hg38UCSC Ensembl
chr21:47407752..47407752hg19UCSC Ensembl
chr21:46232180..46232180hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38397
hg19397
hg18397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4126000
SamplesHuRef
Known GenesCOL6A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1025241
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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