A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579332



Internal ID6704028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028435..7028435hg38UCSC Ensembl
chr17:6931754..6931754hg19UCSC Ensembl
chr17:6872478..6872478hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987894
Supporting Variants
SamplesHuRef
Known GenesBCL6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579332
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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