A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3858644



Internal ID11556541
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1169569
Supporting Variants
SamplesHuRef
Known GenesPRKAR2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3858644
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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