A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000535



Internal ID7065665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:26942420..26953772hg38UCSC Ensembl
Outerchr4:26944042..26955394hg19UCSC Ensembl
Outerchr4:26553140..26564492hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3811353
hg1911353
hg1811353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564186
SamplesHuRef
Known GenesSTIM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000535
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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