A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1082026



Internal ID5212133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42385055..42385055hg38UCSC Ensembl
chr21:43805164..43805164hg19UCSC Ensembl
chr21:42678233..42678233hg18UCSC 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 Variantsessv3753962
SamplesHuRef
Known GenesTMPRSS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1082026
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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