A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1143434



Internal ID5273539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42385046..42385046hg38UCSC Ensembl
chr21:43805155..43805155hg19UCSC Ensembl
chr21:42678224..42678224hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3603760
SamplesHuRef
Known GenesTMPRSS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1143434
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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