A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1321885



Internal ID12138321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133055213..133055213hg38UCSC Ensembl
chr11:132925108..132925108hg19UCSC Ensembl
chr11:132430318..132430318hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3632439
SamplesHuRef
Known GenesOPCML
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1321885
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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