A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3784298



Internal ID11630887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518152..197518369hg38UCSC Ensembl
chr3:197245023..197245240hg19UCSC Ensembl
chr3:198729420..198729637hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1109840
Supporting Variants
SamplesHuRef
Known GenesBDH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3784298
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer