A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575506



Internal ID6700202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028487..7028487hg38UCSC Ensembl
chr17:6931806..6931806hg19UCSC Ensembl
chr17:6872530..6872530hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009485
Supporting Variants
SamplesHuRef
Known GenesBCL6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575506
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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