A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1293972



Internal ID12457094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1754442..1754442hg38UCSC Ensembl
chr11:1775672..1775672hg19UCSC Ensembl
chr11:1732248..1732248hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4093498
SamplesHuRef
Known GenesCTSD, MOB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1293972
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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