A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4164838



Internal ID11100690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106709659..106709659hg38UCSC Ensembl
chr11:106580385..106580385hg19UCSC Ensembl
chr11:106085595..106085595hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1074601
Supporting Variants
SamplesHuRef
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4164838
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