A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1488186



Internal ID12651310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52675833..52676168hg38UCSC Ensembl
chr3:52709849..52710184hg19UCSC Ensembl
chr3:52684889..52685224hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38336
hg19336
hg18336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3744321
SamplesHuRef
Known GenesPBRM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1488186
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