A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010968



Internal ID6723059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20111803..20111803hg38UCSC Ensembl
chr6:20112034..20112034hg19UCSC Ensembl
chr6:20220013..20220013hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581805
SamplesHuRef
Known GenesMBOAT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010968
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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