A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578623



Internal ID7050005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46110776..46110776hg38UCSC Ensembl
chr21:47530690..47530690hg19UCSC Ensembl
chr21:46355118..46355118hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003876
Supporting Variants
SamplesHuRef
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578623
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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