A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010829



Internal ID6722920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3109978..3111697hg38UCSC Ensembl
Outerchr18:3109976..3111695hg19UCSC Ensembl
Outerchr18:3099976..3101695hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383652
hg193652
hg183652
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564257
SamplesHuRef
Known GenesMYOM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010829
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer