A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581639



Internal ID7053022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33156870..33156870hg38UCSC Ensembl
chr21:34529176..34529176hg19UCSC Ensembl
chr21:33451046..33451046hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38391
hg19391
hg18391
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001680
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581639
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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