A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4033428



Internal ID11728446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:426924..426924hg38UCSC Ensembl
chr8:376924..376924hg19UCSC Ensembl
chr8:366924..366924hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1419160
Supporting Variants
SamplesHuRef
Known GenesFBXO25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4033428
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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