A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4241462



Internal ID11177314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14841729..14841729hg38UCSC Ensembl
chr11:14863275..14863275hg19UCSC Ensembl
chr11:14819851..14819851hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381063
hg191063
hg181063
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1063774
Supporting Variants
SamplesHuRef
Known GenesPDE3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4241462
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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