A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1378459



Internal ID12194895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028488..7028488hg38UCSC Ensembl
chr17:6931807..6931807hg19UCSC Ensembl
chr17:6872531..6872531hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4217978
SamplesHuRef
Known GenesBCL6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1378459
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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