A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1169569



Internal ID11986006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48754739..48754883hg38UCSC Ensembl
chr3:48792172..48792316hg19UCSC Ensembl
chr3:48767176..48767320hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38145
hg19145
hg18145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3858644
SamplesHuRef
Known GenesPRKAR2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1169569
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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