A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4167257



Internal ID11449795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8098531..8098597hg38UCSC Ensembl
chr19:8163415..8163481hg19UCSC Ensembl
chr19:8069415..8069481hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1156835
Supporting Variants
SamplesHuRef
Known GenesFBN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4167257
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