A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3875378



Internal ID11539807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23899566..23899872hg38UCSC Ensembl
chr16:23910887..23911193hg19UCSC Ensembl
chr16:23818388..23818694hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1064145
Supporting Variants
SamplesHuRef
Known GenesPRKCB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3875378
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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