A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573220



Internal ID7044602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46111591..46111652hg38UCSC Ensembl
chr21:47531505..47531566hg19UCSC Ensembl
chr21:46355933..46355994hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002133
Supporting Variants
SamplesHuRef
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573220
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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