A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1539730



Internal ID12702851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11120680..11120680hg38UCSC Ensembl
chr5:11120792..11120792hg19UCSC Ensembl
chr5:11173792..11173792hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3791410
SamplesHuRef
Known GenesCTNND2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1539730
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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