A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1671016



Internal ID12487448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106968777..106968777hg38UCSC Ensembl
chr11:106839503..106839503hg19UCSC Ensembl
chr11:106344713..106344713hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38100
hg19100
hg18100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3854780
SamplesHuRef
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1671016
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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