A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1382014



Internal ID12545137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67499587..67499587hg38UCSC Ensembl
chr11:67267058..67267058hg19UCSC Ensembl
chr11:67023634..67023634hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4016868
SamplesHuRef
Known GenesPITPNM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1382014
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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