A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3849698



Internal ID11912173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106709965..106709965hg38UCSC Ensembl
chr11:106580691..106580691hg19UCSC Ensembl
chr11:106085901..106085901hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38608
hg19608
hg18608
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1117785
Supporting Variants
SamplesHuRef
Known GenesGUCY1A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3849698
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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