A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564218



Internal ID7035318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48089134..48090375hg38UCSC Ensembl
Outerchr17:46166496..46167737hg19UCSC Ensembl
Outerchr17:43521495..43522736hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382290
hg192290
hg182290
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003767
Supporting Variants
SamplesHuRef
Known GenesCBX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564218
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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