A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1491587



Internal ID12654709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171316972..171317034hg38UCSC Ensembl
chr3:171034761..171034823hg19UCSC Ensembl
chr3:172517455..172517517hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4268340
SamplesHuRef
Known GenesTNIK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1491587
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