A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1612025



Internal ID12775145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123517910..123518225hg38UCSC Ensembl
chr3:123236757..123237072hg19UCSC Ensembl
chr3:124719447..124719762hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38316
hg19316
hg18316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4154051
SamplesHuRef
Known GenesPTPLB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1612025
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