A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586311



Internal ID7057693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236538548..236558396hg38UCSC Ensembl
Innerchr1:236701848..236721696hg19UCSC Ensembl
Innerchr1:234768471..234788319hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3819849
hg1919849
hg1819849
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995705
Supporting Variants
SamplesHuRef
Known GenesHEATR1, LGALS8
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586311
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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