A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1571231



Internal ID12734353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113332368..113332368hg38UCSC Ensembl
chr13:113986683..113986683hg19UCSC Ensembl
chr13:113034684..113034684hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4143045
SamplesHuRef
Known GenesGRTP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1571231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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