A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000363



Internal ID7065493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170397588..170398515hg38UCSC Ensembl
Outerchr6:170706676..170707603hg19UCSC Ensembl
Outerchr6:170548601..170549528hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3817986
hg1917986
hg1817986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564486
SamplesHuRef
Known GenesFAM120B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000363
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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