A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1789699



Internal ID12606131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17591780..17591780hg38UCSC Ensembl
chr10:17633779..17633779hg19UCSC Ensembl
chr10:17673785..17673785hg18UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3933435
SamplesHuRef
Known GenesPTPLA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1789699
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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