A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990474



Internal ID7076605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35794033..35804083hg38UCSC Ensembl
Outerchr6:35761810..35771860hg19UCSC Ensembl
Outerchr6:35869788..35879838hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3813238
hg1913238
hg1813238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565559
SamplesHuRef
Known GenesCLPS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990474
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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