A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3638186



Internal ID11776996
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1703699
Supporting Variants
SamplesHuRef
Known GenesMBOAT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3638186
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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