A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4197971



Internal ID11480509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98443877..98443877hg38UCSC Ensembl
chr13:99096131..99096131hg19UCSC Ensembl
chr13:97894132..97894132hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1283656
Supporting Variants
SamplesHuRef
Known GenesFARP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4197971
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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