A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3612038



Internal ID11803144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98473275..98473275hg38UCSC Ensembl
chr13:99125529..99125529hg19UCSC Ensembl
chr13:97923530..97923530hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1791098
Supporting Variants
SamplesHuRef
Known GenesSTK24
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3612038
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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