A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990241



Internal ID7076484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34407385..34407393hg38UCSC Ensembl
chr17:32734404..32734412hg19UCSC Ensembl
chr17:29758517..29758525hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572794
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990241
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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