A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1703699



Internal ID12520131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20111834..20111834hg38UCSC Ensembl
chr6:20112065..20112065hg19UCSC Ensembl
chr6:20220044..20220044hg18UCSC 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 Variantsessv3638186
SamplesHuRef
Known GenesMBOAT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1703699
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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