A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1074601



Internal ID11891040
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4164838
SamplesHuRef
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1074601
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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