A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4129653



Internal ID11412192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113263159..113263159hg38UCSC Ensembl
chr13:113917473..113917473hg19UCSC Ensembl
chr13:112965474..112965474hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1574408
Supporting Variants
SamplesHuRef
Known GenesCUL4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4129653
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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